Canonical Allele Identifier: CA218424122

Gene: ABCC8

Linked Data

• dbSNP Id: rs76806418
• gnomAD v2: 11-17429698-T-C
• gnomAD v3: 11-17408151-T-C
• gnomAD v4: 11-17408151-T-C
• MyVariant Identifiers: chr11:g.17429698T>C (hg19) ; chr11:g.17408151T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408151T>C , CM000673.2:g.17408151T>C	GRCh38
NC_000011.9:g.17429698T>C , CM000673.1:g.17429698T>C	GRCh37
NC_000011.8:g.17386274T>C	NCBI36
NG_008867.1:g.73752A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2489+241A>G
ENST00000529967.6:n.1079+241A>G
ENST00000532220.2:n.552+241A>G
ENST00000642611.2:n.2889+241A>G
ENST00000682051.1:n.2836+241A>G
ENST00000682110.1:n.2889+241A>G
ENST00000682140.1:c.2817+241A>G	ENSP00000507829.1:n.2817+241A>G
ENST00000682185.1:n.4125+241A>G
ENST00000682204.1:c.*958+241A>G	ENSP00000507094.1:n.*958+241A>G
ENST00000682215.1:n.2886+241A>G
ENST00000682288.1:c.*1251+241A>G	ENSP00000507506.1:n.*1251+241A>G
ENST00000682442.1:n.3010+241A>G
ENST00000682528.1:n.2886+241A>G
ENST00000682673.1:n.2833+241A>G
ENST00000682805.1:n.2886+241A>G
ENST00000682965.1:c.2817+241A>G	ENSP00000508229.1:n.2817+241A>G
ENST00000683093.1:n.2988+241A>G
ENST00000683136.1:c.2817+241A>G	ENSP00000507768.1:n.2817+241A>G
ENST00000683153.1:n.3045+241A>G
ENST00000683365.1:n.2991+241A>G
ENST00000683377.1:n.2889+241A>G
ENST00000683456.1:c.2820+241A>G	ENSP00000508318.1:n.2820+241A>G
ENST00000683522.1:n.2889+241A>G
ENST00000683562.1:c.*989+241A>G	ENSP00000508265.1:n.*989+241A>G
ENST00000683693.1:n.2886+241A>G
ENST00000683725.1:c.2820+241A>G	ENSP00000507496.1:n.2820+241A>G
ENST00000684010.1:n.2804+241A>G
ENST00000684157.1:n.2889+241A>G
ENST00000684253.1:n.2792+241A>G
ENST00000684288.1:c.*992+241A>G	ENSP00000507143.1:n.*992+241A>G
ENST00000684313.1:n.2321+241A>G
ENST00000684332.1:n.2962+241A>G
ENST00000684371.1:n.2995+241A>G
ENST00000684404.1:n.2886+241A>G
ENST00000684442.1:n.2889+241A>G
ENST00000684555.1:c.*1032+241A>G	ENSP00000507705.1:n.*1032+241A>G
ENST00000684571.1:c.2661+241A>G	ENSP00000506935.1:n.2661+241A>G
ENST00000684593.1:c.*2525+241A>G	ENSP00000507005.1:n.*2525+241A>G
ENST00000684711.1:c.*1216+241A>G	ENSP00000506841.1:n.*1216+241A>G
ENST00000302539.9:c.2823+241A>G	ENSP00000303960.4:n.2823+241A>G
ENST00000389817.8:c.2820+241A>G MANE Select	ENSP00000374467.4:n.2820+241A>G
ENST00000642271.1:c.2817+241A>G	ENSP00000493749.1:n.2817+241A>G
ENST00000642579.1:c.904+241A>G
ENST00000642611.1:n.2774+241A>G
ENST00000642902.1:c.2655+241A>G
ENST00000643260.1:c.2820+241A>G	ENSP00000494450.1:n.2820+241A>G
ENST00000643562.1:c.*796+241A>G	ENSP00000496124.1:n.*796+241A>G
ENST00000643925.1:c.864+241A>G
ENST00000644447.1:c.1176+241A>G	ENSP00000496282.1:n.1176+241A>G
ENST00000644484.1:c.*1029+241A>G	ENSP00000493558.1:n.*1029+241A>G
ENST00000644542.1:c.*2525+241A>G	ENSP00000495532.1:n.*2525+241A>G
ENST00000644675.1:c.*992+241A>G	ENSP00000494567.1:n.*992+241A>G
ENST00000644757.1:c.*1125+241A>G	ENSP00000495085.1:n.*1125+241A>G
ENST00000644772.1:c.2886+241A>G	ENSP00000494321.1:n.2886+241A>G
ENST00000645076.1:c.2072+241A>G
ENST00000645744.1:c.*1184+241A>G	ENSP00000494564.1:n.*1184+241A>G
ENST00000645760.1:c.3095+241A>G
ENST00000645884.1:c.2820+241A>G	ENSP00000495516.1:n.2820+241A>G
ENST00000646003.1:c.*876+241A>G	ENSP00000495259.1:n.*876+241A>G
ENST00000646207.1:c.*1287+49A>G	ENSP00000495025.1:n.*1287+49A>G
ENST00000646276.1:c.*1093+241A>G	ENSP00000496070.1:n.*1093+241A>G
ENST00000646592.1:c.2046+241A>G
ENST00000646902.1:c.2817+241A>G	ENSP00000494101.1:n.2817+241A>G
ENST00000646993.1:c.*1216+241A>G	ENSP00000493720.1:n.*1216+241A>G
ENST00000647013.1:c.2826+241A>G	ENSP00000496741.1:n.2826+241A>G
ENST00000647015.1:c.2571+241A>G	ENSP00000495389.1:n.2571+241A>G
ENST00000647086.1:c.*2550+241A>G	ENSP00000493677.1:n.*2550+241A>G
ENST00000647158.1:c.*961+241A>G	ENSP00000495744.1:n.*961+241A>G
ENST00000302539.8:c.2823+241A>G	ENSP00000303960.4:n.2823+241A>G
ENST00000389817.7:c.2820+241A>G	ENSP00000374467.3:n.2820+241A>G
ENST00000526921.5:n.504+241A>G
ENST00000527905.5:c.2790+241A>G	ENSP00000431653.1:n.2790+241A>G
ENST00000529967.5:n.489+241A>G
NM_000352.4:c.2820+241A>G	NP_000343.2:n.2820+241A>G
NM_001287174.1:c.2823+241A>G	NP_001274103.1:n.2823+241A>G
XM_011520331.1:c.2820+241A>G	XP_011518633.1:n.2820+241A>G
XM_011520332.1:c.2823+241A>G	XP_011518634.1:n.2823+241A>G
XM_011520333.1:c.1320+241A>G	XP_011518635.1:n.1320+241A>G
XM_011520334.1:c.2823+241A>G	XP_011518636.1:n.2823+241A>G
XR_930890.1:n.2886+241A>G
XR_930891.1:n.2886+241A>G
XR_930892.1:n.2886+241A>G
XR_930893.1:n.2883+241A>G
NM_001351295.1:c.2886+241A>G	NP_001338224.1:n.2886+241A>G
NM_001351296.1:c.2820+241A>G	NP_001338225.1:n.2820+241A>G
NM_001351297.1:c.2817+241A>G	NP_001338226.1:n.2817+241A>G
NR_147094.1:n.2889+241A>G
XM_017018197.2:c.2889+241A>G	XP_016873686.1:n.2889+241A>G
XM_017018199.1:c.2886+241A>G	XP_016873688.1:n.2886+241A>G
XM_017018201.2:c.2889+241A>G	XP_016873690.1:n.2889+241A>G
XM_017018202.1:c.1386+241A>G	XP_016873691.1:n.1386+241A>G
XM_017018204.1:c.777+241A>G	XP_016873693.1:n.777+241A>G
XM_024448668.1:c.1188+241A>G	XP_024304436.1:n.1188+241A>G
XR_001747945.2:n.2961+241A>G
XR_001747946.2:n.2892+241A>G
XR_002957189.1:n.2961+241A>G
NM_000352.6:c.2820+241A>G MANE Select	NP_000343.2:n.2820+241A>G
NM_001287174.2:c.2823+241A>G	NP_001274103.1:n.2823+241A>G
NM_001351295.2:c.2886+241A>G	NP_001338224.1:n.2886+241A>G
NM_001351296.2:c.2820+241A>G	NP_001338225.1:n.2820+241A>G
NM_001351297.2:c.2817+241A>G	NP_001338226.1:n.2817+241A>G
NR_147094.2:n.2889+241A>G
NM_001287174.3:c.2823+241A>G	NP_001274103.1:n.2823+241A>G