Canonical Allele Identifier: CA379782722

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415821T>A (hg19) ; chr11:g.17394274T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17394274T>A , CM000673.2:g.17394274T>A	GRCh38
NC_000011.9:g.17415821T>A , CM000673.1:g.17415821T>A	GRCh37
NC_000011.8:g.17372397T>A	NCBI36
NG_008867.1:g.87629A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4138A>T
ENST00000526037.6:n.472A>T
ENST00000528374.2:c.1128A>T
ENST00000529967.6:n.2876A>T
ENST00000532220.2:n.3770A>T
ENST00000642611.2:n.5870A>T
ENST00000644057.2:n.1113A>T
ENST00000645004.2:n.2036A>T
ENST00000682051.1:n.4699A>T
ENST00000682110.1:n.4752A>T
ENST00000682140.1:c.*323A>T	ENSP00000507829.1:n.*323A>T
ENST00000682185.1:n.5842A>T
ENST00000682204.1:c.*2675A>T	ENSP00000507094.1:n.*2675A>T
ENST00000682215.1:n.5119A>T
ENST00000682288.1:c.*2968A>T	ENSP00000507506.1:n.*2968A>T
ENST00000682442.1:n.4972A>T
ENST00000682528.1:n.4829A>T
ENST00000682673.1:n.4696A>T
ENST00000682805.1:n.5157A>T
ENST00000682965.1:c.*959A>T	ENSP00000508229.1:n.*959A>T
ENST00000683093.1:n.5732A>T
ENST00000683136.1:c.4420A>T	ENSP00000507768.1:p.Met1474Leu
ENST00000683153.1:n.4794A>T
ENST00000683365.1:n.4854A>T
ENST00000683377.1:n.4648A>T
ENST00000683456.1:c.*1674A>T	ENSP00000508318.1:n.*1674A>T
ENST00000683522.1:n.4834A>T
ENST00000683562.1:c.*2602A>T	ENSP00000508265.1:n.*2602A>T
ENST00000683693.1:n.6213A>T
ENST00000683725.1:c.*2A>T	ENSP00000507496.1:n.*2A>T
ENST00000684010.1:n.4747A>T
ENST00000684014.1:n.724A>T
ENST00000684157.1:n.5737A>T
ENST00000684253.1:n.4655A>T
ENST00000684288.1:c.*2709A>T	ENSP00000507143.1:n.*2709A>T
ENST00000684313.1:n.4184A>T
ENST00000684332.1:n.4825A>T
ENST00000684371.1:n.4858A>T
ENST00000684404.1:n.5780A>T
ENST00000684442.1:n.4976A>T
ENST00000684555.1:c.*2749A>T	ENSP00000507705.1:n.*2749A>T
ENST00000684571.1:c.4378A>T	ENSP00000506935.1:p.Met1460Leu
ENST00000684593.1:c.*4242A>T	ENSP00000507005.1:n.*4242A>T
ENST00000684711.1:c.*2933A>T	ENSP00000506841.1:n.*2933A>T
ENST00000302539.9:c.4540A>T	ENSP00000303960.4:p.Met1514Leu
ENST00000389817.8:c.4537A>T MANE Select	ENSP00000374467.4:p.Met1513Leu
ENST00000642271.1:c.4534A>T	ENSP00000493749.1:p.Met1512Leu
ENST00000642579.1:c.2591A>T
ENST00000642611.1:n.5755A>T
ENST00000642902.1:c.4319A>T
ENST00000643260.1:c.4537A>T	ENSP00000494450.1:p.Met1513Leu
ENST00000643562.1:c.*2659A>T	ENSP00000496124.1:n.*2659A>T
ENST00000643925.1:c.3177A>T
ENST00000644057.1:n.696A>T
ENST00000644484.1:c.*3923A>T	ENSP00000493558.1:n.*3923A>T
ENST00000644675.1:c.*2709A>T	ENSP00000494567.1:n.*2709A>T
ENST00000644757.1:c.*3203-1294A>T	ENSP00000495085.1:n.*3203-1294A>T
ENST00000644772.1:c.4603A>T	ENSP00000494321.1:p.Met1535Leu
ENST00000645004.1:n.2230A>T
ENST00000645076.1:c.3632A>T
ENST00000645417.1:c.1725A>T
ENST00000645744.1:c.*4222A>T	ENSP00000494564.1:n.*4222A>T
ENST00000645760.1:c.4958A>T
ENST00000645884.1:c.*1820A>T	ENSP00000495516.1:n.*1820A>T
ENST00000646003.1:c.*2559A>T	ENSP00000495259.1:n.*2559A>T
ENST00000646207.1:c.*3374A>T	ENSP00000495025.1:n.*3374A>T
ENST00000646276.1:c.*3941A>T	ENSP00000496070.1:n.*3941A>T
ENST00000646592.1:c.3843A>T
ENST00000646902.1:c.4504A>T	ENSP00000494101.1:p.Met1502Leu
ENST00000646993.1:c.*2975A>T	ENSP00000493720.1:n.*2975A>T
ENST00000647015.1:c.4288A>T	ENSP00000495389.1:p.Met1430Leu
ENST00000647086.1:c.*4123A>T	ENSP00000493677.1:n.*4123A>T
ENST00000647158.1:c.*2824A>T	ENSP00000495744.1:n.*2824A>T
ENST00000302539.8:c.4540A>T	ENSP00000303960.4:p.Met1514Leu
ENST00000389817.7:c.4537A>T	ENSP00000374467.3:p.Met1513Leu
ENST00000525022.1:n.432A>T
ENST00000526037.5:n.297A>T
ENST00000526168.5:c.325A>T
ENST00000531642.5:c.568A>T
NM_000352.4:c.4537A>T	NP_000343.2:p.Met1513Leu
NM_001287174.1:c.4540A>T	NP_001274103.1:p.Met1514Leu
XM_011520331.1:c.4537A>T	XP_011518633.1:p.Met1513Leu
XM_011520332.1:c.*2A>T	XP_011518634.1:n.*2A>T
XM_011520333.1:c.3037A>T	XP_011518635.1:p.Met1013Leu
XR_930890.1:n.4499A>T
NM_001351295.1:c.4603A>T	NP_001338224.1:p.Met1535Leu
NM_001351296.1:c.4537A>T	NP_001338225.1:p.Met1513Leu
NM_001351297.1:c.4534A>T	NP_001338226.1:p.Met1512Leu
NR_147094.1:n.4832A>T
XM_017018197.2:c.4606A>T	XP_016873686.1:p.Met1536Leu
XM_017018199.1:c.4603A>T	XP_016873688.1:p.Met1535Leu
XM_017018201.2:c.*2A>T	XP_016873690.1:n.*2A>T
XM_017018202.1:c.3103A>T	XP_016873691.1:p.Met1035Leu
XM_017018204.1:c.2494A>T	XP_016873693.1:p.Met832Leu
XM_024448668.1:c.2905A>T	XP_024304436.1:p.Met969Leu
XR_001747945.2:n.4574A>T
XR_001747946.2:n.4505A>T
XR_002957189.1:n.6288A>T
NM_000352.6:c.4537A>T MANE Select	NP_000343.2:p.Met1513Leu
NM_001287174.2:c.4540A>T	NP_001274103.1:p.Met1514Leu
NM_001351295.2:c.4603A>T	NP_001338224.1:p.Met1535Leu
NM_001351296.2:c.4537A>T	NP_001338225.1:p.Met1513Leu
NM_001351297.2:c.4534A>T	NP_001338226.1:p.Met1512Leu
NR_147094.2:n.4832A>T
NM_001287174.3:c.4540A>T	NP_001274103.1:p.Met1514Leu