Canonical Allele Identifier: CA379787450

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417260T>A (hg19) ; chr11:g.17395713T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395713T>A , CM000673.2:g.17395713T>A	GRCh38
NC_000011.9:g.17417260T>A , CM000673.1:g.17417260T>A	GRCh37
NC_000011.8:g.17373836T>A	NCBI36
NG_008867.1:g.86190A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3805A>T
ENST00000528374.2:c.795A>T
ENST00000529967.6:n.2543A>T
ENST00000532220.2:n.3437A>T
ENST00000642611.2:n.5537A>T
ENST00000644057.2:n.780A>T
ENST00000645004.2:n.1703A>T
ENST00000682051.1:n.4366A>T
ENST00000682110.1:n.4419A>T
ENST00000682140.1:c.4070A>T	ENSP00000507829.1:p.His1357Leu
ENST00000682185.1:n.5509A>T
ENST00000682204.1:c.*2342A>T	ENSP00000507094.1:n.*2342A>T
ENST00000682215.1:n.4786A>T
ENST00000682288.1:c.*2635A>T	ENSP00000507506.1:n.*2635A>T
ENST00000682442.1:n.4639A>T
ENST00000682528.1:n.4496A>T
ENST00000682673.1:n.4363A>T
ENST00000682805.1:n.4824A>T
ENST00000682965.1:c.*626A>T	ENSP00000508229.1:n.*626A>T
ENST00000683093.1:n.5503A>T
ENST00000683136.1:c.4087A>T	ENSP00000507768.1:p.Ile1363Phe
ENST00000683153.1:n.4461A>T
ENST00000683365.1:n.4521A>T
ENST00000683377.1:n.4419A>T
ENST00000683456.1:c.*1341A>T	ENSP00000508318.1:n.*1341A>T
ENST00000683522.1:n.4419A>T
ENST00000683562.1:c.*2373A>T	ENSP00000508265.1:n.*2373A>T
ENST00000683693.1:n.5984A>T
ENST00000683725.1:c.4204A>T	ENSP00000507496.1:p.Ile1402Phe
ENST00000684010.1:n.4414A>T
ENST00000684157.1:n.5404A>T
ENST00000684253.1:n.4322A>T
ENST00000684288.1:c.*2376A>T	ENSP00000507143.1:n.*2376A>T
ENST00000684313.1:n.3851A>T
ENST00000684332.1:n.4492A>T
ENST00000684371.1:n.4525A>T
ENST00000684404.1:n.5447A>T
ENST00000684442.1:n.4643A>T
ENST00000684555.1:c.*2416A>T	ENSP00000507705.1:n.*2416A>T
ENST00000684571.1:c.4045A>T	ENSP00000506935.1:p.Ile1349Phe
ENST00000684593.1:c.*3909A>T	ENSP00000507005.1:n.*3909A>T
ENST00000684711.1:c.*2600A>T	ENSP00000506841.1:n.*2600A>T
ENST00000302539.9:c.4207A>T	ENSP00000303960.4:p.Ile1403Phe
ENST00000389817.8:c.4204A>T MANE Select	ENSP00000374467.4:p.Ile1402Phe
ENST00000642271.1:c.4201A>T	ENSP00000493749.1:p.Ile1401Phe
ENST00000642579.1:c.2258A>T
ENST00000642611.1:n.5422A>T
ENST00000642902.1:c.3986A>T
ENST00000643260.1:c.4204A>T	ENSP00000494450.1:p.Ile1402Phe
ENST00000643562.1:c.*2326A>T	ENSP00000496124.1:n.*2326A>T
ENST00000643925.1:c.2844A>T
ENST00000644057.1:n.281A>T
ENST00000644484.1:c.*3590A>T	ENSP00000493558.1:n.*3590A>T
ENST00000644675.1:c.*2376A>T	ENSP00000494567.1:n.*2376A>T
ENST00000644757.1:c.*3202+551A>T	ENSP00000495085.1:n.*3202+551A>T
ENST00000644772.1:c.4270A>T	ENSP00000494321.1:p.Ile1424Phe
ENST00000645004.1:n.1897A>T
ENST00000645076.1:c.3403A>T
ENST00000645417.1:c.1392A>T
ENST00000645744.1:c.*3964-75A>T	ENSP00000494564.1:n.*3964-75A>T
ENST00000645760.1:c.4625A>T
ENST00000645884.1:c.*1487A>T	ENSP00000495516.1:n.*1487A>T
ENST00000646003.1:c.*2301-75A>T	ENSP00000495259.1:n.*2301-75A>T
ENST00000646207.1:c.*3041A>T	ENSP00000495025.1:n.*3041A>T
ENST00000646276.1:c.*3608A>T	ENSP00000496070.1:n.*3608A>T
ENST00000646592.1:c.3510A>T
ENST00000646902.1:c.4171A>T	ENSP00000494101.1:p.Ile1391Phe
ENST00000646993.1:c.*2746A>T	ENSP00000493720.1:n.*2746A>T
ENST00000647013.1:c.4210A>T	ENSP00000496741.1:n.4210A>T
ENST00000647015.1:c.3955A>T	ENSP00000495389.1:p.Ile1319Phe
ENST00000647086.1:c.*3790A>T	ENSP00000493677.1:n.*3790A>T
ENST00000647158.1:c.*2491A>T	ENSP00000495744.1:n.*2491A>T
ENST00000302539.8:c.4207A>T	ENSP00000303960.4:p.Ile1403Phe
ENST00000389817.7:c.4204A>T	ENSP00000374467.3:p.Ile1402Phe
ENST00000525022.1:n.203A>T
ENST00000526037.5:n.68A>T
ENST00000526168.5:c.67-75A>T
ENST00000531642.5:c.40A>T
NM_000352.4:c.4204A>T	NP_000343.2:p.Ile1402Phe
NM_001287174.1:c.4207A>T	NP_001274103.1:p.Ile1403Phe
XM_011520331.1:c.4204A>T	XP_011518633.1:p.Ile1402Phe
XM_011520332.1:c.4207A>T	XP_011518634.1:p.Ile1403Phe
XM_011520333.1:c.2704A>T	XP_011518635.1:p.Ile902Phe
XR_930890.1:n.4270A>T
NM_001351295.1:c.4270A>T	NP_001338224.1:p.Ile1424Phe
NM_001351296.1:c.4204A>T	NP_001338225.1:p.Ile1402Phe
NM_001351297.1:c.4201A>T	NP_001338226.1:p.Ile1401Phe
NR_147094.1:n.4499A>T
XM_017018197.2:c.4273A>T	XP_016873686.1:p.Ile1425Phe
XM_017018199.1:c.4270A>T	XP_016873688.1:p.Ile1424Phe
XM_017018201.2:c.4273A>T	XP_016873690.1:p.Ile1425Phe
XM_017018202.1:c.2770A>T	XP_016873691.1:p.Ile924Phe
XM_017018204.1:c.2161A>T	XP_016873693.1:p.Ile721Phe
XM_024448668.1:c.2572A>T	XP_024304436.1:p.Ile858Phe
XR_001747945.2:n.4345A>T
XR_001747946.2:n.4276A>T
XR_002957189.1:n.6059A>T
NM_000352.6:c.4204A>T MANE Select	NP_000343.2:p.Ile1402Phe
NM_001287174.2:c.4207A>T	NP_001274103.1:p.Ile1403Phe
NM_001351295.2:c.4270A>T	NP_001338224.1:p.Ile1424Phe
NM_001351296.2:c.4204A>T	NP_001338225.1:p.Ile1402Phe
NM_001351297.2:c.4201A>T	NP_001338226.1:p.Ile1401Phe
NR_147094.2:n.4499A>T
NM_001287174.3:c.4207A>T	NP_001274103.1:p.Ile1403Phe