Canonical Allele Identifier: CA379787101

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395694-T-A
• MyVariant Identifiers: chr11:g.17417241T>A (hg19) ; chr11:g.17395694T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395694T>A , CM000673.2:g.17395694T>A	GRCh38
NC_000011.9:g.17417241T>A , CM000673.1:g.17417241T>A	GRCh37
NC_000011.8:g.17373817T>A	NCBI36
NG_008867.1:g.86209A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3824A>T
ENST00000528374.2:c.814A>T
ENST00000529967.6:n.2562A>T
ENST00000532220.2:n.3456A>T
ENST00000642611.2:n.5556A>T
ENST00000644057.2:n.799A>T
ENST00000645004.2:n.1722A>T
ENST00000682051.1:n.4385A>T
ENST00000682110.1:n.4438A>T
ENST00000682140.1:c.*9A>T	ENSP00000507829.1:n.*9A>T
ENST00000682185.1:n.5528A>T
ENST00000682204.1:c.*2361A>T	ENSP00000507094.1:n.*2361A>T
ENST00000682215.1:n.4805A>T
ENST00000682288.1:c.*2654A>T	ENSP00000507506.1:n.*2654A>T
ENST00000682442.1:n.4658A>T
ENST00000682528.1:n.4515A>T
ENST00000682673.1:n.4382A>T
ENST00000682805.1:n.4843A>T
ENST00000682965.1:c.*645A>T	ENSP00000508229.1:n.*645A>T
ENST00000683093.1:n.5522A>T
ENST00000683136.1:c.4106A>T	ENSP00000507768.1:p.Asp1369Val
ENST00000683153.1:n.4480A>T
ENST00000683365.1:n.4540A>T
ENST00000683377.1:n.4438A>T
ENST00000683456.1:c.*1360A>T	ENSP00000508318.1:n.*1360A>T
ENST00000683522.1:n.4438A>T
ENST00000683562.1:c.*2392A>T	ENSP00000508265.1:n.*2392A>T
ENST00000683693.1:n.6003A>T
ENST00000683725.1:c.4223A>T	ENSP00000507496.1:p.Asp1408Val
ENST00000684010.1:n.4433A>T
ENST00000684157.1:n.5423A>T
ENST00000684253.1:n.4341A>T
ENST00000684288.1:c.*2395A>T	ENSP00000507143.1:n.*2395A>T
ENST00000684313.1:n.3870A>T
ENST00000684332.1:n.4511A>T
ENST00000684371.1:n.4544A>T
ENST00000684404.1:n.5466A>T
ENST00000684442.1:n.4662A>T
ENST00000684555.1:c.*2435A>T	ENSP00000507705.1:n.*2435A>T
ENST00000684571.1:c.4064A>T	ENSP00000506935.1:p.Asp1355Val
ENST00000684593.1:c.*3928A>T	ENSP00000507005.1:n.*3928A>T
ENST00000684711.1:c.*2619A>T	ENSP00000506841.1:n.*2619A>T
ENST00000302539.9:c.4226A>T	ENSP00000303960.4:p.Asp1409Val
ENST00000389817.8:c.4223A>T MANE Select	ENSP00000374467.4:p.Asp1408Val
ENST00000642271.1:c.4220A>T	ENSP00000493749.1:p.Asp1407Val
ENST00000642579.1:c.2277A>T
ENST00000642611.1:n.5441A>T
ENST00000642902.1:c.4005A>T
ENST00000643260.1:c.4223A>T	ENSP00000494450.1:p.Asp1408Val
ENST00000643562.1:c.*2345A>T	ENSP00000496124.1:n.*2345A>T
ENST00000643925.1:c.2863A>T
ENST00000644057.1:n.300A>T
ENST00000644484.1:c.*3609A>T	ENSP00000493558.1:n.*3609A>T
ENST00000644675.1:c.*2395A>T	ENSP00000494567.1:n.*2395A>T
ENST00000644757.1:c.*3202+570A>T	ENSP00000495085.1:n.*3202+570A>T
ENST00000644772.1:c.4289A>T	ENSP00000494321.1:p.Asp1430Val
ENST00000645004.1:n.1916A>T
ENST00000645076.1:c.3422A>T
ENST00000645417.1:c.1411A>T
ENST00000645744.1:c.*3964-56A>T	ENSP00000494564.1:n.*3964-56A>T
ENST00000645760.1:c.4644A>T
ENST00000645884.1:c.*1506A>T	ENSP00000495516.1:n.*1506A>T
ENST00000646003.1:c.*2301-56A>T	ENSP00000495259.1:n.*2301-56A>T
ENST00000646207.1:c.*3060A>T	ENSP00000495025.1:n.*3060A>T
ENST00000646276.1:c.*3627A>T	ENSP00000496070.1:n.*3627A>T
ENST00000646592.1:c.3529A>T
ENST00000646902.1:c.4190A>T	ENSP00000494101.1:p.Asp1397Val
ENST00000646993.1:c.*2765A>T	ENSP00000493720.1:n.*2765A>T
ENST00000647013.1:c.4229A>T	ENSP00000496741.1:n.4229A>T
ENST00000647015.1:c.3974A>T	ENSP00000495389.1:p.Asp1325Val
ENST00000647086.1:c.*3809A>T	ENSP00000493677.1:n.*3809A>T
ENST00000647158.1:c.*2510A>T	ENSP00000495744.1:n.*2510A>T
ENST00000302539.8:c.4226A>T	ENSP00000303960.4:p.Asp1409Val
ENST00000389817.7:c.4223A>T	ENSP00000374467.3:p.Asp1408Val
ENST00000525022.1:n.222A>T
ENST00000526037.5:n.87A>T
ENST00000526168.5:c.67-56A>T
ENST00000531642.5:c.59A>T
NM_000352.4:c.4223A>T	NP_000343.2:p.Asp1408Val
NM_001287174.1:c.4226A>T	NP_001274103.1:p.Asp1409Val
XM_011520331.1:c.4223A>T	XP_011518633.1:p.Asp1408Val
XM_011520332.1:c.4226A>T	XP_011518634.1:p.Asp1409Val
XM_011520333.1:c.2723A>T	XP_011518635.1:p.Asp908Val
XR_930890.1:n.4289A>T
NM_001351295.1:c.4289A>T	NP_001338224.1:p.Asp1430Val
NM_001351296.1:c.4223A>T	NP_001338225.1:p.Asp1408Val
NM_001351297.1:c.4220A>T	NP_001338226.1:p.Asp1407Val
NR_147094.1:n.4518A>T
XM_017018197.2:c.4292A>T	XP_016873686.1:p.Asp1431Val
XM_017018199.1:c.4289A>T	XP_016873688.1:p.Asp1430Val
XM_017018201.2:c.4292A>T	XP_016873690.1:p.Asp1431Val
XM_017018202.1:c.2789A>T	XP_016873691.1:p.Asp930Val
XM_017018204.1:c.2180A>T	XP_016873693.1:p.Asp727Val
XM_024448668.1:c.2591A>T	XP_024304436.1:p.Asp864Val
XR_001747945.2:n.4364A>T
XR_001747946.2:n.4295A>T
XR_002957189.1:n.6078A>T
NM_000352.6:c.4223A>T MANE Select	NP_000343.2:p.Asp1408Val
NM_001287174.2:c.4226A>T	NP_001274103.1:p.Asp1409Val
NM_001351295.2:c.4289A>T	NP_001338224.1:p.Asp1430Val
NM_001351296.2:c.4223A>T	NP_001338225.1:p.Asp1408Val
NM_001351297.2:c.4220A>T	NP_001338226.1:p.Asp1407Val
NR_147094.2:n.4518A>T
NM_001287174.3:c.4226A>T	NP_001274103.1:p.Asp1409Val