Canonical Allele Identifier: CA379805978

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17432076G>T (hg19) ; chr11:g.17410529G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17410529G>T , CM000673.2:g.17410529G>T	GRCh38
NC_000011.9:g.17432076G>T , CM000673.1:g.17432076G>T	GRCh37
NC_000011.8:g.17388652G>T	NCBI36
NG_008867.1:g.71374C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2350C>A
ENST00000529967.6:n.940C>A
ENST00000642611.2:n.2750C>A
ENST00000682051.1:n.2697C>A
ENST00000682110.1:n.2750C>A
ENST00000682140.1:c.2678C>A	ENSP00000507829.1:p.Pro893His
ENST00000682185.1:n.3986C>A
ENST00000682204.1:c.*819C>A	ENSP00000507094.1:n.*819C>A
ENST00000682215.1:n.2747C>A
ENST00000682288.1:c.*1112C>A	ENSP00000507506.1:n.*1112C>A
ENST00000682442.1:n.2871C>A
ENST00000682528.1:n.2747C>A
ENST00000682673.1:n.2694C>A
ENST00000682805.1:n.2747C>A
ENST00000682965.1:c.2678C>A	ENSP00000508229.1:p.Pro893His
ENST00000683093.1:n.2849C>A
ENST00000683136.1:c.2678C>A	ENSP00000507768.1:p.Pro893His
ENST00000683153.1:n.2906C>A
ENST00000683365.1:n.2852C>A
ENST00000683377.1:n.2750C>A
ENST00000683456.1:c.2681C>A	ENSP00000508318.1:p.Pro894His
ENST00000683522.1:n.2750C>A
ENST00000683562.1:c.*850C>A	ENSP00000508265.1:n.*850C>A
ENST00000683693.1:n.2747C>A
ENST00000683725.1:c.2681C>A	ENSP00000507496.1:p.Pro894His
ENST00000684010.1:n.2665C>A
ENST00000684157.1:n.2750C>A
ENST00000684253.1:n.2653C>A
ENST00000684288.1:c.*853C>A	ENSP00000507143.1:n.*853C>A
ENST00000684313.1:n.2182C>A
ENST00000684332.1:n.2823C>A
ENST00000684371.1:n.2856C>A
ENST00000684404.1:n.2747C>A
ENST00000684442.1:n.2750C>A
ENST00000684555.1:c.*893C>A	ENSP00000507705.1:n.*893C>A
ENST00000684571.1:c.2522C>A	ENSP00000506935.1:p.Pro841His
ENST00000684593.1:c.*2386C>A	ENSP00000507005.1:n.*2386C>A
ENST00000684711.1:c.*1077C>A	ENSP00000506841.1:n.*1077C>A
ENST00000302539.9:c.2684C>A	ENSP00000303960.4:p.Pro895His
ENST00000389817.8:c.2681C>A MANE Select	ENSP00000374467.4:p.Pro894His
ENST00000642271.1:c.2678C>A	ENSP00000493749.1:p.Pro893His
ENST00000642579.1:c.765C>A
ENST00000642611.1:n.2635C>A
ENST00000642902.1:c.2516C>A
ENST00000643260.1:c.2681C>A	ENSP00000494450.1:p.Pro894His
ENST00000643562.1:c.*657C>A	ENSP00000496124.1:n.*657C>A
ENST00000643925.1:c.725C>A
ENST00000644447.1:c.1037C>A	ENSP00000496282.1:p.Pro346His
ENST00000644472.1:c.*1042C>A	ENSP00000495378.1:n.*1042C>A
ENST00000644484.1:c.*890C>A	ENSP00000493558.1:n.*890C>A
ENST00000644542.1:c.*2386C>A	ENSP00000495532.1:n.*2386C>A
ENST00000644675.1:c.*853C>A	ENSP00000494567.1:n.*853C>A
ENST00000644757.1:c.*986C>A	ENSP00000495085.1:n.*986C>A
ENST00000644772.1:c.2747C>A	ENSP00000494321.1:p.Pro916His
ENST00000645076.1:c.1933C>A
ENST00000645744.1:c.*1045C>A	ENSP00000494564.1:n.*1045C>A
ENST00000645760.1:c.2956C>A
ENST00000645884.1:c.2681C>A	ENSP00000495516.1:p.Pro894His
ENST00000646003.1:c.*737C>A	ENSP00000495259.1:n.*737C>A
ENST00000646207.1:c.*1045C>A	ENSP00000495025.1:n.*1045C>A
ENST00000646276.1:c.*954C>A	ENSP00000496070.1:n.*954C>A
ENST00000646592.1:c.1907C>A
ENST00000646902.1:c.2678C>A	ENSP00000494101.1:p.Pro893His
ENST00000646993.1:c.*1077C>A	ENSP00000493720.1:n.*1077C>A
ENST00000647013.1:c.2687C>A	ENSP00000496741.1:n.2687C>A
ENST00000647015.1:c.2432C>A	ENSP00000495389.1:p.Pro811His
ENST00000647086.1:c.*2411C>A	ENSP00000493677.1:n.*2411C>A
ENST00000647158.1:c.*822C>A	ENSP00000495744.1:n.*822C>A
ENST00000302539.8:c.2684C>A	ENSP00000303960.4:p.Pro895His
ENST00000389817.7:c.2681C>A	ENSP00000374467.3:p.Pro894His
ENST00000526921.5:n.365C>A
ENST00000527905.5:c.2651C>A	ENSP00000431653.1:p.Pro884His
ENST00000529967.5:n.350C>A
ENST00000530147.5:n.264C>A
NM_000352.4:c.2681C>A	NP_000343.2:p.Pro894His
NM_001287174.1:c.2684C>A	NP_001274103.1:p.Pro895His
XM_011520331.1:c.2681C>A	XP_011518633.1:p.Pro894His
XM_011520332.1:c.2684C>A	XP_011518634.1:p.Pro895His
XM_011520333.1:c.1181C>A	XP_011518635.1:p.Pro394His
XM_011520334.1:c.2684C>A	XP_011518636.1:p.Pro895His
XR_930890.1:n.2747C>A
XR_930891.1:n.2747C>A
XR_930892.1:n.2747C>A
XR_930893.1:n.2744C>A
NM_001351295.1:c.2747C>A	NP_001338224.1:p.Pro916His
NM_001351296.1:c.2681C>A	NP_001338225.1:p.Pro894His
NM_001351297.1:c.2678C>A	NP_001338226.1:p.Pro893His
NR_147094.1:n.2750C>A
XM_017018197.2:c.2750C>A	XP_016873686.1:p.Pro917His
XM_017018199.1:c.2747C>A	XP_016873688.1:p.Pro916His
XM_017018201.2:c.2750C>A	XP_016873690.1:p.Pro917His
XM_017018202.1:c.1247C>A	XP_016873691.1:p.Pro416His
XM_017018204.1:c.638C>A	XP_016873693.1:p.Pro213His
XM_024448668.1:c.1049C>A	XP_024304436.1:p.Pro350His
XR_001747945.2:n.2822C>A
XR_001747946.2:n.2753C>A
XR_002957189.1:n.2822C>A
NM_000352.6:c.2681C>A MANE Select	NP_000343.2:p.Pro894His
NM_001287174.2:c.2684C>A	NP_001274103.1:p.Pro895His
NM_001351295.2:c.2747C>A	NP_001338224.1:p.Pro916His
NM_001351296.2:c.2681C>A	NP_001338225.1:p.Pro894His
NM_001351297.2:c.2678C>A	NP_001338226.1:p.Pro893His
NR_147094.2:n.2750C>A
NM_001287174.3:c.2684C>A	NP_001274103.1:p.Pro895His