Canonical Allele Identifier: CA379804932

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17429966C>G (hg19) ; chr11:g.17408419C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408419C>G , CM000673.2:g.17408419C>G	GRCh38
NC_000011.9:g.17429966C>G , CM000673.1:g.17429966C>G	GRCh37
NC_000011.8:g.17386542C>G	NCBI36
NG_008867.1:g.73484G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2462G>C
ENST00000529967.6:n.1052G>C
ENST00000532220.2:n.525G>C
ENST00000642611.2:n.2862G>C
ENST00000682051.1:n.2809G>C
ENST00000682110.1:n.2862G>C
ENST00000682140.1:c.2790G>C	ENSP00000507829.1:p.Met930Ile
ENST00000682185.1:n.4098G>C
ENST00000682204.1:c.*931G>C	ENSP00000507094.1:n.*931G>C
ENST00000682215.1:n.2859G>C
ENST00000682288.1:c.*1224G>C	ENSP00000507506.1:n.*1224G>C
ENST00000682442.1:n.2983G>C
ENST00000682528.1:n.2859G>C
ENST00000682673.1:n.2806G>C
ENST00000682805.1:n.2859G>C
ENST00000682965.1:c.2790G>C	ENSP00000508229.1:p.Met930Ile
ENST00000683093.1:n.2961G>C
ENST00000683136.1:c.2790G>C	ENSP00000507768.1:p.Met930Ile
ENST00000683153.1:n.3018G>C
ENST00000683365.1:n.2964G>C
ENST00000683377.1:n.2862G>C
ENST00000683456.1:c.2793G>C	ENSP00000508318.1:p.Met931Ile
ENST00000683522.1:n.2862G>C
ENST00000683562.1:c.*962G>C	ENSP00000508265.1:n.*962G>C
ENST00000683693.1:n.2859G>C
ENST00000683725.1:c.2793G>C	ENSP00000507496.1:p.Met931Ile
ENST00000684010.1:n.2777G>C
ENST00000684157.1:n.2862G>C
ENST00000684253.1:n.2765G>C
ENST00000684288.1:c.*965G>C	ENSP00000507143.1:n.*965G>C
ENST00000684313.1:n.2294G>C
ENST00000684332.1:n.2935G>C
ENST00000684371.1:n.2968G>C
ENST00000684404.1:n.2859G>C
ENST00000684442.1:n.2862G>C
ENST00000684555.1:c.*1005G>C	ENSP00000507705.1:n.*1005G>C
ENST00000684571.1:c.2634G>C	ENSP00000506935.1:p.Met878Ile
ENST00000684593.1:c.*2498G>C	ENSP00000507005.1:n.*2498G>C
ENST00000684711.1:c.*1189G>C	ENSP00000506841.1:n.*1189G>C
ENST00000302539.9:c.2796G>C	ENSP00000303960.4:p.Met932Ile
ENST00000389817.8:c.2793G>C MANE Select	ENSP00000374467.4:p.Met931Ile
ENST00000642271.1:c.2790G>C	ENSP00000493749.1:p.Met930Ile
ENST00000642579.1:c.877G>C
ENST00000642611.1:n.2747G>C
ENST00000642902.1:c.2628G>C
ENST00000643260.1:c.2793G>C	ENSP00000494450.1:p.Met931Ile
ENST00000643562.1:c.*769G>C	ENSP00000496124.1:n.*769G>C
ENST00000643925.1:c.837G>C
ENST00000644447.1:c.1149G>C	ENSP00000496282.1:p.Met383Ile
ENST00000644484.1:c.*1002G>C	ENSP00000493558.1:n.*1002G>C
ENST00000644542.1:c.*2498G>C	ENSP00000495532.1:n.*2498G>C
ENST00000644675.1:c.*965G>C	ENSP00000494567.1:n.*965G>C
ENST00000644757.1:c.*1098G>C	ENSP00000495085.1:n.*1098G>C
ENST00000644772.1:c.2859G>C	ENSP00000494321.1:p.Met953Ile
ENST00000645076.1:c.2045G>C
ENST00000645744.1:c.*1157G>C	ENSP00000494564.1:n.*1157G>C
ENST00000645760.1:c.3068G>C
ENST00000645884.1:c.2793G>C	ENSP00000495516.1:p.Met931Ile
ENST00000646003.1:c.*849G>C	ENSP00000495259.1:n.*849G>C
ENST00000646207.1:c.*1157G>C	ENSP00000495025.1:n.*1157G>C
ENST00000646276.1:c.*1066G>C	ENSP00000496070.1:n.*1066G>C
ENST00000646592.1:c.2019G>C
ENST00000646902.1:c.2790G>C	ENSP00000494101.1:p.Met930Ile
ENST00000646993.1:c.*1189G>C	ENSP00000493720.1:n.*1189G>C
ENST00000647013.1:c.2799G>C	ENSP00000496741.1:n.2799G>C
ENST00000647015.1:c.2544G>C	ENSP00000495389.1:p.Met848Ile
ENST00000647086.1:c.*2523G>C	ENSP00000493677.1:n.*2523G>C
ENST00000647158.1:c.*934G>C	ENSP00000495744.1:n.*934G>C
ENST00000302539.8:c.2796G>C	ENSP00000303960.4:p.Met932Ile
ENST00000389817.7:c.2793G>C	ENSP00000374467.3:p.Met931Ile
ENST00000526921.5:n.477G>C
ENST00000527905.5:c.2763G>C	ENSP00000431653.1:p.Met921Ile
ENST00000529967.5:n.462G>C
NM_000352.4:c.2793G>C	NP_000343.2:p.Met931Ile
NM_001287174.1:c.2796G>C	NP_001274103.1:p.Met932Ile
XM_011520331.1:c.2793G>C	XP_011518633.1:p.Met931Ile
XM_011520332.1:c.2796G>C	XP_011518634.1:p.Met932Ile
XM_011520333.1:c.1293G>C	XP_011518635.1:p.Met431Ile
XM_011520334.1:c.2796G>C	XP_011518636.1:p.Met932Ile
XR_930890.1:n.2859G>C
XR_930891.1:n.2859G>C
XR_930892.1:n.2859G>C
XR_930893.1:n.2856G>C
NM_001351295.1:c.2859G>C	NP_001338224.1:p.Met953Ile
NM_001351296.1:c.2793G>C	NP_001338225.1:p.Met931Ile
NM_001351297.1:c.2790G>C	NP_001338226.1:p.Met930Ile
NR_147094.1:n.2862G>C
XM_017018197.2:c.2862G>C	XP_016873686.1:p.Met954Ile
XM_017018199.1:c.2859G>C	XP_016873688.1:p.Met953Ile
XM_017018201.2:c.2862G>C	XP_016873690.1:p.Met954Ile
XM_017018202.1:c.1359G>C	XP_016873691.1:p.Met453Ile
XM_017018204.1:c.750G>C	XP_016873693.1:p.Met250Ile
XM_024448668.1:c.1161G>C	XP_024304436.1:p.Met387Ile
XR_001747945.2:n.2934G>C
XR_001747946.2:n.2865G>C
XR_002957189.1:n.2934G>C
NM_000352.6:c.2793G>C MANE Select	NP_000343.2:p.Met931Ile
NM_001287174.2:c.2796G>C	NP_001274103.1:p.Met932Ile
NM_001351295.2:c.2859G>C	NP_001338224.1:p.Met953Ile
NM_001351296.2:c.2793G>C	NP_001338225.1:p.Met931Ile
NM_001351297.2:c.2790G>C	NP_001338226.1:p.Met930Ile
NR_147094.2:n.2862G>C
NM_001287174.3:c.2796G>C	NP_001274103.1:p.Met932Ile