Canonical Allele Identifier: CA379807453

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17434241A>T (hg19) ; chr11:g.17412694A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17412694A>T , CM000673.2:g.17412694A>T	GRCh38
NC_000011.9:g.17434241A>T , CM000673.1:g.17434241A>T	GRCh37
NC_000011.8:g.17390817A>T	NCBI36
NG_008867.1:g.69209T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2197T>A
ENST00000529967.6:n.787T>A
ENST00000642611.2:n.2597T>A
ENST00000682051.1:n.2544T>A
ENST00000682110.1:n.2597T>A
ENST00000682140.1:c.2525T>A	ENSP00000507829.1:p.Leu842His
ENST00000682185.1:n.3833T>A
ENST00000682204.1:c.*666T>A	ENSP00000507094.1:n.*666T>A
ENST00000682215.1:n.2594T>A
ENST00000682288.1:c.*959T>A	ENSP00000507506.1:n.*959T>A
ENST00000682442.1:n.2718T>A
ENST00000682528.1:n.2594T>A
ENST00000682673.1:n.2541T>A
ENST00000682805.1:n.2594T>A
ENST00000682965.1:c.2525T>A	ENSP00000508229.1:p.Leu842His
ENST00000683093.1:n.2696T>A
ENST00000683136.1:c.2525T>A	ENSP00000507768.1:p.Leu842His
ENST00000683153.1:n.2753T>A
ENST00000683365.1:n.2699T>A
ENST00000683377.1:n.2597T>A
ENST00000683456.1:c.2528T>A	ENSP00000508318.1:p.Leu843His
ENST00000683522.1:n.2597T>A
ENST00000683562.1:c.*697T>A	ENSP00000508265.1:n.*697T>A
ENST00000683693.1:n.2594T>A
ENST00000683725.1:c.2528T>A	ENSP00000507496.1:p.Leu843His
ENST00000684010.1:n.2512T>A
ENST00000684157.1:n.2597T>A
ENST00000684253.1:n.2500T>A
ENST00000684288.1:c.*700T>A	ENSP00000507143.1:n.*700T>A
ENST00000684313.1:n.2029T>A
ENST00000684332.1:n.2670T>A
ENST00000684371.1:n.2703T>A
ENST00000684404.1:n.2594T>A
ENST00000684442.1:n.2597T>A
ENST00000684555.1:c.*740T>A	ENSP00000507705.1:n.*740T>A
ENST00000684571.1:c.2369T>A	ENSP00000506935.1:p.Leu790His
ENST00000684593.1:c.*2233T>A	ENSP00000507005.1:n.*2233T>A
ENST00000684711.1:c.*924T>A	ENSP00000506841.1:n.*924T>A
ENST00000302539.9:c.2531T>A	ENSP00000303960.4:p.Leu844His
ENST00000389817.8:c.2528T>A MANE Select	ENSP00000374467.4:p.Leu843His
ENST00000642271.1:c.2525T>A	ENSP00000493749.1:p.Leu842His
ENST00000642579.1:c.612T>A
ENST00000642611.1:n.2482T>A
ENST00000642902.1:c.2363T>A
ENST00000643260.1:c.2528T>A	ENSP00000494450.1:p.Leu843His
ENST00000643562.1:c.*504T>A	ENSP00000496124.1:n.*504T>A
ENST00000643925.1:c.572T>A
ENST00000644447.1:c.884T>A	ENSP00000496282.1:p.Leu295His
ENST00000644472.1:c.*889T>A	ENSP00000495378.1:n.*889T>A
ENST00000644484.1:c.*737T>A	ENSP00000493558.1:n.*737T>A
ENST00000644542.1:c.*2233T>A	ENSP00000495532.1:n.*2233T>A
ENST00000644675.1:c.*700T>A	ENSP00000494567.1:n.*700T>A
ENST00000644757.1:c.*833T>A	ENSP00000495085.1:n.*833T>A
ENST00000644772.1:c.2594T>A	ENSP00000494321.1:p.Leu865His
ENST00000645076.1:c.1780T>A
ENST00000645744.1:c.*892T>A	ENSP00000494564.1:n.*892T>A
ENST00000645760.1:c.2803T>A
ENST00000645884.1:c.2528T>A	ENSP00000495516.1:p.Leu843His
ENST00000646003.1:c.*584T>A	ENSP00000495259.1:n.*584T>A
ENST00000646207.1:c.*892T>A	ENSP00000495025.1:n.*892T>A
ENST00000646276.1:c.*801T>A	ENSP00000496070.1:n.*801T>A
ENST00000646592.1:c.1754T>A
ENST00000646902.1:c.2525T>A	ENSP00000494101.1:p.Leu842His
ENST00000646993.1:c.*924T>A	ENSP00000493720.1:n.*924T>A
ENST00000647013.1:c.2534T>A	ENSP00000496741.1:n.2534T>A
ENST00000647015.1:c.2279T>A	ENSP00000495389.1:p.Leu760His
ENST00000647086.1:c.*2258T>A	ENSP00000493677.1:n.*2258T>A
ENST00000647158.1:c.*669T>A	ENSP00000495744.1:n.*669T>A
ENST00000302539.8:c.2531T>A	ENSP00000303960.4:p.Leu844His
ENST00000389817.7:c.2528T>A	ENSP00000374467.3:p.Leu843His
ENST00000526921.5:n.212T>A
ENST00000527905.5:c.2498T>A	ENSP00000431653.1:p.Leu833His
ENST00000529967.5:n.197T>A
ENST00000530147.5:n.111T>A
ENST00000531911.1:n.642T>A
NM_000352.4:c.2528T>A	NP_000343.2:p.Leu843His
NM_001287174.1:c.2531T>A	NP_001274103.1:p.Leu844His
XM_011520331.1:c.2528T>A	XP_011518633.1:p.Leu843His
XM_011520332.1:c.2531T>A	XP_011518634.1:p.Leu844His
XM_011520333.1:c.1028T>A	XP_011518635.1:p.Leu343His
XM_011520334.1:c.2531T>A	XP_011518636.1:p.Leu844His
XR_930890.1:n.2594T>A
XR_930891.1:n.2594T>A
XR_930892.1:n.2594T>A
XR_930893.1:n.2591T>A
NM_001351295.1:c.2594T>A	NP_001338224.1:p.Leu865His
NM_001351296.1:c.2528T>A	NP_001338225.1:p.Leu843His
NM_001351297.1:c.2525T>A	NP_001338226.1:p.Leu842His
NR_147094.1:n.2597T>A
XM_017018197.2:c.2597T>A	XP_016873686.1:p.Leu866His
XM_017018199.1:c.2594T>A	XP_016873688.1:p.Leu865His
XM_017018201.2:c.2597T>A	XP_016873690.1:p.Leu866His
XM_017018202.1:c.1094T>A	XP_016873691.1:p.Leu365His
XM_017018204.1:c.485T>A	XP_016873693.1:p.Leu162His
XM_024448668.1:c.896T>A	XP_024304436.1:p.Leu299His
XR_001747945.2:n.2669T>A
XR_001747946.2:n.2600T>A
XR_002957189.1:n.2669T>A
NM_000352.6:c.2528T>A MANE Select	NP_000343.2:p.Leu843His
NM_001287174.2:c.2531T>A	NP_001274103.1:p.Leu844His
NM_001351295.2:c.2594T>A	NP_001338224.1:p.Leu865His
NM_001351296.2:c.2528T>A	NP_001338225.1:p.Leu843His
NM_001351297.2:c.2525T>A	NP_001338226.1:p.Leu842His
NR_147094.2:n.2597T>A
NM_001287174.3:c.2531T>A	NP_001274103.1:p.Leu844His