Canonical Allele Identifier: CA379782092

Gene: ABCC8

Linked Data

• dbSNP Id: rs1953754020
• gnomAD v4: 11-17393737-A-G
• MyVariant Identifiers: chr11:g.17415284A>G (hg19) ; chr11:g.17393737A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393737A>G , CM000673.2:g.17393737A>G	GRCh38
NC_000011.9:g.17415284A>G , CM000673.1:g.17415284A>G	GRCh37
NC_000011.8:g.17371860A>G	NCBI36
NG_008867.1:g.88166T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4169T>C
ENST00000526037.6:n.503T>C
ENST00000528374.2:c.1159T>C
ENST00000529967.6:n.2907T>C
ENST00000532220.2:n.3801T>C
ENST00000642611.2:n.5901T>C
ENST00000644057.2:n.1144T>C
ENST00000645004.2:n.2067T>C
ENST00000682051.1:n.4730T>C
ENST00000682110.1:n.4783T>C
ENST00000682140.1:c.*354T>C	ENSP00000507829.1:n.*354T>C
ENST00000682185.1:n.5873T>C
ENST00000682204.1:c.*2706T>C	ENSP00000507094.1:n.*2706T>C
ENST00000682215.1:n.5150T>C
ENST00000682288.1:c.*2999T>C	ENSP00000507506.1:n.*2999T>C
ENST00000682442.1:n.5003T>C
ENST00000682528.1:n.4860T>C
ENST00000682673.1:n.4727T>C
ENST00000682805.1:n.5188T>C
ENST00000682965.1:c.*990T>C	ENSP00000508229.1:n.*990T>C
ENST00000683093.1:n.5763T>C
ENST00000683136.1:c.4451T>C	ENSP00000507768.1:p.Val1484Ala
ENST00000683153.1:n.4825T>C
ENST00000683365.1:n.4885T>C
ENST00000683377.1:n.4679T>C
ENST00000683456.1:c.*1705T>C	ENSP00000508318.1:n.*1705T>C
ENST00000683522.1:n.4865T>C
ENST00000683562.1:c.*2633T>C	ENSP00000508265.1:n.*2633T>C
ENST00000683693.1:n.6244T>C
ENST00000683725.1:c.*33T>C	ENSP00000507496.1:n.*33T>C
ENST00000684010.1:n.4778T>C
ENST00000684014.1:n.755T>C
ENST00000684157.1:n.5768T>C
ENST00000684253.1:n.4686T>C
ENST00000684288.1:c.*2740T>C	ENSP00000507143.1:n.*2740T>C
ENST00000684313.1:n.4215T>C
ENST00000684332.1:n.4856T>C
ENST00000684371.1:n.4889T>C
ENST00000684404.1:n.5811T>C
ENST00000684442.1:n.5007T>C
ENST00000684555.1:c.*2780T>C	ENSP00000507705.1:n.*2780T>C
ENST00000684571.1:c.4409T>C	ENSP00000506935.1:p.Val1470Ala
ENST00000684593.1:c.*4273T>C	ENSP00000507005.1:n.*4273T>C
ENST00000684711.1:c.*2964T>C	ENSP00000506841.1:n.*2964T>C
ENST00000302539.9:c.4571T>C	ENSP00000303960.4:p.Val1524Ala
ENST00000389817.8:c.4568T>C MANE Select	ENSP00000374467.4:p.Val1523Ala
ENST00000642271.1:c.4565T>C	ENSP00000493749.1:p.Val1522Ala
ENST00000642579.1:c.2622T>C
ENST00000642611.1:n.5786T>C
ENST00000642902.1:c.4350T>C
ENST00000643260.1:c.4568T>C	ENSP00000494450.1:p.Val1523Ala
ENST00000643562.1:c.*2690T>C	ENSP00000496124.1:n.*2690T>C
ENST00000643925.1:c.3185+529T>C
ENST00000644057.1:n.727T>C
ENST00000644484.1:c.*3954T>C	ENSP00000493558.1:n.*3954T>C
ENST00000644675.1:c.*2740T>C	ENSP00000494567.1:n.*2740T>C
ENST00000644757.1:c.*3203-757T>C	ENSP00000495085.1:n.*3203-757T>C
ENST00000644772.1:c.4634T>C	ENSP00000494321.1:p.Val1545Ala
ENST00000645004.1:n.2261T>C
ENST00000645076.1:c.3663T>C
ENST00000645417.1:c.1756T>C
ENST00000645744.1:c.*4253T>C	ENSP00000494564.1:n.*4253T>C
ENST00000645760.1:c.4989T>C
ENST00000645884.1:c.*1851T>C	ENSP00000495516.1:n.*1851T>C
ENST00000646003.1:c.*2590T>C	ENSP00000495259.1:n.*2590T>C
ENST00000646207.1:c.*3405T>C	ENSP00000495025.1:n.*3405T>C
ENST00000646276.1:c.*3972T>C	ENSP00000496070.1:n.*3972T>C
ENST00000646592.1:c.3874T>C
ENST00000646902.1:c.4535T>C	ENSP00000494101.1:p.Val1512Ala
ENST00000646993.1:c.*3006T>C	ENSP00000493720.1:n.*3006T>C
ENST00000647015.1:c.4319T>C	ENSP00000495389.1:p.Val1440Ala
ENST00000647086.1:c.*4154T>C	ENSP00000493677.1:n.*4154T>C
ENST00000647158.1:c.*2855T>C	ENSP00000495744.1:n.*2855T>C
ENST00000302539.8:c.4571T>C	ENSP00000303960.4:p.Val1524Ala
ENST00000389817.7:c.4568T>C	ENSP00000374467.3:p.Val1523Ala
ENST00000525022.1:n.463T>C
ENST00000526037.5:n.328T>C
ENST00000526168.5:c.356T>C
ENST00000531642.5:c.599T>C
NM_000352.4:c.4568T>C	NP_000343.2:p.Val1523Ala
NM_001287174.1:c.4571T>C	NP_001274103.1:p.Val1524Ala
XM_011520331.1:c.4568T>C	XP_011518633.1:p.Val1523Ala
XM_011520333.1:c.3068T>C	XP_011518635.1:p.Val1023Ala
XR_930890.1:n.4530T>C
NM_001351295.1:c.4634T>C	NP_001338224.1:p.Val1545Ala
NM_001351296.1:c.4568T>C	NP_001338225.1:p.Val1523Ala
NM_001351297.1:c.4565T>C	NP_001338226.1:p.Val1522Ala
NR_147094.1:n.4863T>C
XM_017018197.2:c.4637T>C	XP_016873686.1:p.Val1546Ala
XM_017018199.1:c.4634T>C	XP_016873688.1:p.Val1545Ala
XM_017018202.1:c.3134T>C	XP_016873691.1:p.Val1045Ala
XM_017018204.1:c.2525T>C	XP_016873693.1:p.Val842Ala
XM_024448668.1:c.2936T>C	XP_024304436.1:p.Val979Ala
XR_001747945.2:n.4605T>C
XR_001747946.2:n.4536T>C
XR_002957189.1:n.6319T>C
NM_000352.6:c.4568T>C MANE Select	NP_000343.2:p.Val1523Ala
NM_001287174.2:c.4571T>C	NP_001274103.1:p.Val1524Ala
NM_001351295.2:c.4634T>C	NP_001338224.1:p.Val1545Ala
NM_001351296.2:c.4568T>C	NP_001338225.1:p.Val1523Ala
NM_001351297.2:c.4565T>C	NP_001338226.1:p.Val1522Ala
NR_147094.2:n.4863T>C
NM_001287174.3:c.4571T>C	NP_001274103.1:p.Val1524Ala