Canonical Allele Identifier: CA379806266

Gene: ABCC8

Linked Data

• dbSNP Id: rs1198579963
• gnomAD v2: 11-17432120-G-T
• gnomAD v4: 11-17410573-G-T
• MyVariant Identifiers: chr11:g.17432120G>T (hg19) ; chr11:g.17410573G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17410573G>T , CM000673.2:g.17410573G>T	GRCh38
NC_000011.9:g.17432120G>T , CM000673.1:g.17432120G>T	GRCh37
NC_000011.8:g.17388696G>T	NCBI36
NG_008867.1:g.71330C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2306C>A
ENST00000529967.6:n.896C>A
ENST00000642611.2:n.2706C>A
ENST00000682051.1:n.2653C>A
ENST00000682110.1:n.2706C>A
ENST00000682140.1:c.2634C>A	ENSP00000507829.1:p.Asp878Glu
ENST00000682185.1:n.3942C>A
ENST00000682204.1:c.*775C>A	ENSP00000507094.1:n.*775C>A
ENST00000682215.1:n.2703C>A
ENST00000682288.1:c.*1068C>A	ENSP00000507506.1:n.*1068C>A
ENST00000682442.1:n.2827C>A
ENST00000682528.1:n.2703C>A
ENST00000682673.1:n.2650C>A
ENST00000682805.1:n.2703C>A
ENST00000682965.1:c.2634C>A	ENSP00000508229.1:p.Asp878Glu
ENST00000683093.1:n.2805C>A
ENST00000683136.1:c.2634C>A	ENSP00000507768.1:p.Asp878Glu
ENST00000683153.1:n.2862C>A
ENST00000683365.1:n.2808C>A
ENST00000683377.1:n.2706C>A
ENST00000683456.1:c.2637C>A	ENSP00000508318.1:p.Asp879Glu
ENST00000683522.1:n.2706C>A
ENST00000683562.1:c.*806C>A	ENSP00000508265.1:n.*806C>A
ENST00000683693.1:n.2703C>A
ENST00000683725.1:c.2637C>A	ENSP00000507496.1:p.Asp879Glu
ENST00000684010.1:n.2621C>A
ENST00000684157.1:n.2706C>A
ENST00000684253.1:n.2609C>A
ENST00000684288.1:c.*809C>A	ENSP00000507143.1:n.*809C>A
ENST00000684313.1:n.2138C>A
ENST00000684332.1:n.2779C>A
ENST00000684371.1:n.2812C>A
ENST00000684404.1:n.2703C>A
ENST00000684442.1:n.2706C>A
ENST00000684555.1:c.*849C>A	ENSP00000507705.1:n.*849C>A
ENST00000684571.1:c.2478C>A	ENSP00000506935.1:p.Asp826Glu
ENST00000684593.1:c.*2342C>A	ENSP00000507005.1:n.*2342C>A
ENST00000684711.1:c.*1033C>A	ENSP00000506841.1:n.*1033C>A
ENST00000302539.9:c.2640C>A	ENSP00000303960.4:p.Asp880Glu
ENST00000389817.8:c.2637C>A MANE Select	ENSP00000374467.4:p.Asp879Glu
ENST00000642271.1:c.2634C>A	ENSP00000493749.1:p.Asp878Glu
ENST00000642579.1:c.721C>A
ENST00000642611.1:n.2591C>A
ENST00000642902.1:c.2472C>A
ENST00000643260.1:c.2637C>A	ENSP00000494450.1:p.Asp879Glu
ENST00000643562.1:c.*613C>A	ENSP00000496124.1:n.*613C>A
ENST00000643925.1:c.681C>A
ENST00000644447.1:c.993C>A	ENSP00000496282.1:p.Asp331Glu
ENST00000644472.1:c.*998C>A	ENSP00000495378.1:n.*998C>A
ENST00000644484.1:c.*846C>A	ENSP00000493558.1:n.*846C>A
ENST00000644542.1:c.*2342C>A	ENSP00000495532.1:n.*2342C>A
ENST00000644675.1:c.*809C>A	ENSP00000494567.1:n.*809C>A
ENST00000644757.1:c.*942C>A	ENSP00000495085.1:n.*942C>A
ENST00000644772.1:c.2703C>A	ENSP00000494321.1:p.Asp901Glu
ENST00000645076.1:c.1889C>A
ENST00000645744.1:c.*1001C>A	ENSP00000494564.1:n.*1001C>A
ENST00000645760.1:c.2912C>A
ENST00000645884.1:c.2637C>A	ENSP00000495516.1:p.Asp879Glu
ENST00000646003.1:c.*693C>A	ENSP00000495259.1:n.*693C>A
ENST00000646207.1:c.*1001C>A	ENSP00000495025.1:n.*1001C>A
ENST00000646276.1:c.*910C>A	ENSP00000496070.1:n.*910C>A
ENST00000646592.1:c.1863C>A
ENST00000646902.1:c.2634C>A	ENSP00000494101.1:p.Asp878Glu
ENST00000646993.1:c.*1033C>A	ENSP00000493720.1:n.*1033C>A
ENST00000647013.1:c.2643C>A	ENSP00000496741.1:n.2643C>A
ENST00000647015.1:c.2388C>A	ENSP00000495389.1:p.Asp796Glu
ENST00000647086.1:c.*2367C>A	ENSP00000493677.1:n.*2367C>A
ENST00000647158.1:c.*778C>A	ENSP00000495744.1:n.*778C>A
ENST00000302539.8:c.2640C>A	ENSP00000303960.4:p.Asp880Glu
ENST00000389817.7:c.2637C>A	ENSP00000374467.3:p.Asp879Glu
ENST00000526921.5:n.321C>A
ENST00000527905.5:c.2607C>A	ENSP00000431653.1:p.Asp869Glu
ENST00000529967.5:n.306C>A
ENST00000530147.5:n.220C>A
NM_000352.4:c.2637C>A	NP_000343.2:p.Asp879Glu
NM_001287174.1:c.2640C>A	NP_001274103.1:p.Asp880Glu
XM_011520331.1:c.2637C>A	XP_011518633.1:p.Asp879Glu
XM_011520332.1:c.2640C>A	XP_011518634.1:p.Asp880Glu
XM_011520333.1:c.1137C>A	XP_011518635.1:p.Asp379Glu
XM_011520334.1:c.2640C>A	XP_011518636.1:p.Asp880Glu
XR_930890.1:n.2703C>A
XR_930891.1:n.2703C>A
XR_930892.1:n.2703C>A
XR_930893.1:n.2700C>A
NM_001351295.1:c.2703C>A	NP_001338224.1:p.Asp901Glu
NM_001351296.1:c.2637C>A	NP_001338225.1:p.Asp879Glu
NM_001351297.1:c.2634C>A	NP_001338226.1:p.Asp878Glu
NR_147094.1:n.2706C>A
XM_017018197.2:c.2706C>A	XP_016873686.1:p.Asp902Glu
XM_017018199.1:c.2703C>A	XP_016873688.1:p.Asp901Glu
XM_017018201.2:c.2706C>A	XP_016873690.1:p.Asp902Glu
XM_017018202.1:c.1203C>A	XP_016873691.1:p.Asp401Glu
XM_017018204.1:c.594C>A	XP_016873693.1:p.Asp198Glu
XM_024448668.1:c.1005C>A	XP_024304436.1:p.Asp335Glu
XR_001747945.2:n.2778C>A
XR_001747946.2:n.2709C>A
XR_002957189.1:n.2778C>A
NM_000352.6:c.2637C>A MANE Select	NP_000343.2:p.Asp879Glu
NM_001287174.2:c.2640C>A	NP_001274103.1:p.Asp880Glu
NM_001351295.2:c.2703C>A	NP_001338224.1:p.Asp901Glu
NM_001351296.2:c.2637C>A	NP_001338225.1:p.Asp879Glu
NM_001351297.2:c.2634C>A	NP_001338226.1:p.Asp878Glu
NR_147094.2:n.2706C>A
NM_001287174.3:c.2640C>A	NP_001274103.1:p.Asp880Glu