Canonical Allele Identifier: CA379805191

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17429996G>C (hg19) ; chr11:g.17408449G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17408449G>C , CM000673.2:g.17408449G>C	GRCh38
NC_000011.9:g.17429996G>C , CM000673.1:g.17429996G>C	GRCh37
NC_000011.8:g.17386572G>C	NCBI36
NG_008867.1:g.73454C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2432C>G
ENST00000529967.6:n.1022C>G
ENST00000532220.2:n.495C>G
ENST00000642611.2:n.2832C>G
ENST00000682051.1:n.2779C>G
ENST00000682110.1:n.2832C>G
ENST00000682140.1:c.2760C>G	ENSP00000507829.1:p.Cys920Trp
ENST00000682185.1:n.4068C>G
ENST00000682204.1:c.*901C>G	ENSP00000507094.1:n.*901C>G
ENST00000682215.1:n.2829C>G
ENST00000682288.1:c.*1194C>G	ENSP00000507506.1:n.*1194C>G
ENST00000682442.1:n.2953C>G
ENST00000682528.1:n.2829C>G
ENST00000682673.1:n.2776C>G
ENST00000682805.1:n.2829C>G
ENST00000682965.1:c.2760C>G	ENSP00000508229.1:p.Cys920Trp
ENST00000683093.1:n.2931C>G
ENST00000683136.1:c.2760C>G	ENSP00000507768.1:p.Cys920Trp
ENST00000683153.1:n.2988C>G
ENST00000683365.1:n.2934C>G
ENST00000683377.1:n.2832C>G
ENST00000683456.1:c.2763C>G	ENSP00000508318.1:p.Cys921Trp
ENST00000683522.1:n.2832C>G
ENST00000683562.1:c.*932C>G	ENSP00000508265.1:n.*932C>G
ENST00000683693.1:n.2829C>G
ENST00000683725.1:c.2763C>G	ENSP00000507496.1:p.Cys921Trp
ENST00000684010.1:n.2747C>G
ENST00000684157.1:n.2832C>G
ENST00000684253.1:n.2735C>G
ENST00000684288.1:c.*935C>G	ENSP00000507143.1:n.*935C>G
ENST00000684313.1:n.2264C>G
ENST00000684332.1:n.2905C>G
ENST00000684371.1:n.2938C>G
ENST00000684404.1:n.2829C>G
ENST00000684442.1:n.2832C>G
ENST00000684555.1:c.*975C>G	ENSP00000507705.1:n.*975C>G
ENST00000684571.1:c.2604C>G	ENSP00000506935.1:p.Cys868Trp
ENST00000684593.1:c.*2468C>G	ENSP00000507005.1:n.*2468C>G
ENST00000684711.1:c.*1159C>G	ENSP00000506841.1:n.*1159C>G
ENST00000302539.9:c.2766C>G	ENSP00000303960.4:p.Cys922Trp
ENST00000389817.8:c.2763C>G MANE Select	ENSP00000374467.4:p.Cys921Trp
ENST00000642271.1:c.2760C>G	ENSP00000493749.1:p.Cys920Trp
ENST00000642579.1:c.847C>G
ENST00000642611.1:n.2717C>G
ENST00000642902.1:c.2598C>G
ENST00000643260.1:c.2763C>G	ENSP00000494450.1:p.Cys921Trp
ENST00000643562.1:c.*739C>G	ENSP00000496124.1:n.*739C>G
ENST00000643925.1:c.807C>G
ENST00000644447.1:c.1119C>G	ENSP00000496282.1:p.Cys373Trp
ENST00000644472.1:c.*1124C>G	ENSP00000495378.1:n.*1124C>G
ENST00000644484.1:c.*972C>G	ENSP00000493558.1:n.*972C>G
ENST00000644542.1:c.*2468C>G	ENSP00000495532.1:n.*2468C>G
ENST00000644675.1:c.*935C>G	ENSP00000494567.1:n.*935C>G
ENST00000644757.1:c.*1068C>G	ENSP00000495085.1:n.*1068C>G
ENST00000644772.1:c.2829C>G	ENSP00000494321.1:p.Cys943Trp
ENST00000645076.1:c.2015C>G
ENST00000645744.1:c.*1127C>G	ENSP00000494564.1:n.*1127C>G
ENST00000645760.1:c.3038C>G
ENST00000645884.1:c.2763C>G	ENSP00000495516.1:p.Cys921Trp
ENST00000646003.1:c.*819C>G	ENSP00000495259.1:n.*819C>G
ENST00000646207.1:c.*1127C>G	ENSP00000495025.1:n.*1127C>G
ENST00000646276.1:c.*1036C>G	ENSP00000496070.1:n.*1036C>G
ENST00000646592.1:c.1989C>G
ENST00000646902.1:c.2760C>G	ENSP00000494101.1:p.Cys920Trp
ENST00000646993.1:c.*1159C>G	ENSP00000493720.1:n.*1159C>G
ENST00000647013.1:c.2769C>G	ENSP00000496741.1:n.2769C>G
ENST00000647015.1:c.2514C>G	ENSP00000495389.1:p.Cys838Trp
ENST00000647086.1:c.*2493C>G	ENSP00000493677.1:n.*2493C>G
ENST00000647158.1:c.*904C>G	ENSP00000495744.1:n.*904C>G
ENST00000302539.8:c.2766C>G	ENSP00000303960.4:p.Cys922Trp
ENST00000389817.7:c.2763C>G	ENSP00000374467.3:p.Cys921Trp
ENST00000526921.5:n.447C>G
ENST00000527905.5:c.2733C>G	ENSP00000431653.1:p.Cys911Trp
ENST00000529967.5:n.432C>G
NM_000352.4:c.2763C>G	NP_000343.2:p.Cys921Trp
NM_001287174.1:c.2766C>G	NP_001274103.1:p.Cys922Trp
XM_011520331.1:c.2763C>G	XP_011518633.1:p.Cys921Trp
XM_011520332.1:c.2766C>G	XP_011518634.1:p.Cys922Trp
XM_011520333.1:c.1263C>G	XP_011518635.1:p.Cys421Trp
XM_011520334.1:c.2766C>G	XP_011518636.1:p.Cys922Trp
XR_930890.1:n.2829C>G
XR_930891.1:n.2829C>G
XR_930892.1:n.2829C>G
XR_930893.1:n.2826C>G
NM_001351295.1:c.2829C>G	NP_001338224.1:p.Cys943Trp
NM_001351296.1:c.2763C>G	NP_001338225.1:p.Cys921Trp
NM_001351297.1:c.2760C>G	NP_001338226.1:p.Cys920Trp
NR_147094.1:n.2832C>G
XM_017018197.2:c.2832C>G	XP_016873686.1:p.Cys944Trp
XM_017018199.1:c.2829C>G	XP_016873688.1:p.Cys943Trp
XM_017018201.2:c.2832C>G	XP_016873690.1:p.Cys944Trp
XM_017018202.1:c.1329C>G	XP_016873691.1:p.Cys443Trp
XM_017018204.1:c.720C>G	XP_016873693.1:p.Cys240Trp
XM_024448668.1:c.1131C>G	XP_024304436.1:p.Cys377Trp
XR_001747945.2:n.2904C>G
XR_001747946.2:n.2835C>G
XR_002957189.1:n.2904C>G
NM_000352.6:c.2763C>G MANE Select	NP_000343.2:p.Cys921Trp
NM_001287174.2:c.2766C>G	NP_001274103.1:p.Cys922Trp
NM_001351295.2:c.2829C>G	NP_001338224.1:p.Cys943Trp
NM_001351296.2:c.2763C>G	NP_001338225.1:p.Cys921Trp
NM_001351297.2:c.2760C>G	NP_001338226.1:p.Cys920Trp
NR_147094.2:n.2832C>G
NM_001287174.3:c.2766C>G	NP_001274103.1:p.Cys922Trp