Canonical Allele Identifier: CA379803962

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428590A>C (hg19) ; chr11:g.17407043A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17407043A>C , CM000673.2:g.17407043A>C	GRCh38
NC_000011.9:g.17428590A>C , CM000673.1:g.17428590A>C	GRCh37
NC_000011.8:g.17385166A>C	NCBI36
NG_008867.1:g.74860T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2576T>G
ENST00000529967.6:n.1346T>G
ENST00000532220.2:n.739T>G
ENST00000642611.2:n.3076T>G
ENST00000645004.2:n.506T>G
ENST00000682051.1:n.3023T>G
ENST00000682110.1:n.3076T>G
ENST00000682140.1:c.3004T>G	ENSP00000507829.1:p.Tyr1002Asp
ENST00000682185.1:n.4312T>G
ENST00000682204.1:c.*1145T>G	ENSP00000507094.1:n.*1145T>G
ENST00000682215.1:n.3073T>G
ENST00000682288.1:c.*1438T>G	ENSP00000507506.1:n.*1438T>G
ENST00000682442.1:n.3197T>G
ENST00000682528.1:n.3153T>G
ENST00000682673.1:n.3020T>G
ENST00000682805.1:n.3073T>G
ENST00000682965.1:c.3004T>G	ENSP00000508229.1:p.Tyr1002Asp
ENST00000683093.1:n.3175T>G
ENST00000683136.1:c.3004T>G	ENSP00000507768.1:p.Tyr1002Asp
ENST00000683153.1:n.3232T>G
ENST00000683365.1:n.3178T>G
ENST00000683377.1:n.3076T>G
ENST00000683456.1:c.*144T>G	ENSP00000508318.1:n.*144T>G
ENST00000683522.1:n.3076T>G
ENST00000683562.1:c.*1176T>G	ENSP00000508265.1:n.*1176T>G
ENST00000683693.1:n.3153T>G
ENST00000683725.1:c.3007T>G	ENSP00000507496.1:p.Tyr1003Asp
ENST00000684010.1:n.3071T>G
ENST00000684157.1:n.3076T>G
ENST00000684253.1:n.2979T>G
ENST00000684288.1:c.*1179T>G	ENSP00000507143.1:n.*1179T>G
ENST00000684313.1:n.2508T>G
ENST00000684332.1:n.3149T>G
ENST00000684371.1:n.3182T>G
ENST00000684404.1:n.3119T>G
ENST00000684442.1:n.3076T>G
ENST00000684555.1:c.*1219T>G	ENSP00000507705.1:n.*1219T>G
ENST00000684571.1:c.2848T>G	ENSP00000506935.1:p.Tyr950Asp
ENST00000684593.1:c.*2712T>G	ENSP00000507005.1:n.*2712T>G
ENST00000684711.1:c.*1403T>G	ENSP00000506841.1:n.*1403T>G
ENST00000302539.9:c.3010T>G	ENSP00000303960.4:p.Tyr1004Asp
ENST00000389817.8:c.3007T>G MANE Select	ENSP00000374467.4:p.Tyr1003Asp
ENST00000642271.1:c.3004T>G	ENSP00000493749.1:p.Tyr1002Asp
ENST00000642579.1:c.1091T>G
ENST00000642611.1:n.2961T>G
ENST00000642902.1:c.2789T>G
ENST00000643260.1:c.3007T>G	ENSP00000494450.1:p.Tyr1003Asp
ENST00000643562.1:c.*983T>G	ENSP00000496124.1:n.*983T>G
ENST00000643925.1:c.1131T>G
ENST00000644447.1:c.1363T>G	ENSP00000496282.1:p.Tyr455Asp
ENST00000644484.1:c.*1262T>G	ENSP00000493558.1:n.*1262T>G
ENST00000644542.1:c.*2712T>G	ENSP00000495532.1:n.*2712T>G
ENST00000644675.1:c.*1179T>G	ENSP00000494567.1:n.*1179T>G
ENST00000644757.1:c.*1292T>G	ENSP00000495085.1:n.*1292T>G
ENST00000644772.1:c.3073T>G	ENSP00000494321.1:p.Tyr1025Asp
ENST00000645004.1:n.146T>G
ENST00000645076.1:c.2206T>G
ENST00000645417.1:c.173T>G
ENST00000645744.1:c.*1271T>G	ENSP00000494564.1:n.*1271T>G
ENST00000645760.1:c.3282T>G
ENST00000645884.1:c.*144T>G	ENSP00000495516.1:n.*144T>G
ENST00000646003.1:c.*963T>G	ENSP00000495259.1:n.*963T>G
ENST00000646207.1:c.*1474T>G	ENSP00000495025.1:n.*1474T>G
ENST00000646276.1:c.*1280T>G	ENSP00000496070.1:n.*1280T>G
ENST00000646592.1:c.2313T>G
ENST00000646902.1:c.3004T>G	ENSP00000494101.1:p.Tyr1002Asp
ENST00000646993.1:c.*1403T>G	ENSP00000493720.1:n.*1403T>G
ENST00000647013.1:c.3013T>G	ENSP00000496741.1:n.3013T>G
ENST00000647015.1:c.2758T>G	ENSP00000495389.1:p.Tyr920Asp
ENST00000647086.1:c.*2737T>G	ENSP00000493677.1:n.*2737T>G
ENST00000647158.1:c.*1148T>G	ENSP00000495744.1:n.*1148T>G
ENST00000302539.8:c.3010T>G	ENSP00000303960.4:p.Tyr1004Asp
ENST00000389817.7:c.3007T>G	ENSP00000374467.3:p.Tyr1003Asp
ENST00000524561.1:n.139T>G
ENST00000526921.5:n.691T>G
ENST00000527905.5:c.2877T>G	ENSP00000431653.1:p.Ser959Arg
ENST00000529967.5:n.676T>G
NM_000352.4:c.3007T>G	NP_000343.2:p.Tyr1003Asp
NM_001287174.1:c.3010T>G	NP_001274103.1:p.Tyr1004Asp
XM_011520331.1:c.3007T>G	XP_011518633.1:p.Tyr1003Asp
XM_011520332.1:c.3010T>G	XP_011518634.1:p.Tyr1004Asp
XM_011520333.1:c.1507T>G	XP_011518635.1:p.Tyr503Asp
XR_930890.1:n.3073T>G
XR_930891.1:n.3073T>G
XR_930892.1:n.2973T>G
XR_930893.1:n.2970T>G
NM_001351295.1:c.3073T>G	NP_001338224.1:p.Tyr1025Asp
NM_001351296.1:c.3007T>G	NP_001338225.1:p.Tyr1003Asp
NM_001351297.1:c.3004T>G	NP_001338226.1:p.Tyr1002Asp
NR_147094.1:n.3156T>G
XM_017018197.2:c.3076T>G	XP_016873686.1:p.Tyr1026Asp
XM_017018199.1:c.3073T>G	XP_016873688.1:p.Tyr1025Asp
XM_017018201.2:c.3076T>G	XP_016873690.1:p.Tyr1026Asp
XM_017018202.1:c.1573T>G	XP_016873691.1:p.Tyr525Asp
XM_017018204.1:c.964T>G	XP_016873693.1:p.Tyr322Asp
XM_024448668.1:c.1375T>G	XP_024304436.1:p.Tyr459Asp
XR_001747945.2:n.3148T>G
XR_001747946.2:n.3079T>G
XR_002957189.1:n.3228T>G
NM_000352.6:c.3007T>G MANE Select	NP_000343.2:p.Tyr1003Asp
NM_001287174.2:c.3010T>G	NP_001274103.1:p.Tyr1004Asp
NM_001351295.2:c.3073T>G	NP_001338224.1:p.Tyr1025Asp
NM_001351296.2:c.3007T>G	NP_001338225.1:p.Tyr1003Asp
NM_001351297.2:c.3004T>G	NP_001338226.1:p.Tyr1002Asp
NR_147094.2:n.3156T>G
NM_001287174.3:c.3010T>G	NP_001274103.1:p.Tyr1004Asp