Canonical Allele Identifier: CA379806109

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17432095G>T (hg19) ; chr11:g.17410548G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17410548G>T , CM000673.2:g.17410548G>T	GRCh38
NC_000011.9:g.17432095G>T , CM000673.1:g.17432095G>T	GRCh37
NC_000011.8:g.17388671G>T	NCBI36
NG_008867.1:g.71355C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2331C>A
ENST00000529967.6:n.921C>A
ENST00000642611.2:n.2731C>A
ENST00000682051.1:n.2678C>A
ENST00000682110.1:n.2731C>A
ENST00000682140.1:c.2659C>A	ENSP00000507829.1:p.His887Asn
ENST00000682185.1:n.3967C>A
ENST00000682204.1:c.*800C>A	ENSP00000507094.1:n.*800C>A
ENST00000682215.1:n.2728C>A
ENST00000682288.1:c.*1093C>A	ENSP00000507506.1:n.*1093C>A
ENST00000682442.1:n.2852C>A
ENST00000682528.1:n.2728C>A
ENST00000682673.1:n.2675C>A
ENST00000682805.1:n.2728C>A
ENST00000682965.1:c.2659C>A	ENSP00000508229.1:p.His887Asn
ENST00000683093.1:n.2830C>A
ENST00000683136.1:c.2659C>A	ENSP00000507768.1:p.His887Asn
ENST00000683153.1:n.2887C>A
ENST00000683365.1:n.2833C>A
ENST00000683377.1:n.2731C>A
ENST00000683456.1:c.2662C>A	ENSP00000508318.1:p.His888Asn
ENST00000683522.1:n.2731C>A
ENST00000683562.1:c.*831C>A	ENSP00000508265.1:n.*831C>A
ENST00000683693.1:n.2728C>A
ENST00000683725.1:c.2662C>A	ENSP00000507496.1:p.His888Asn
ENST00000684010.1:n.2646C>A
ENST00000684157.1:n.2731C>A
ENST00000684253.1:n.2634C>A
ENST00000684288.1:c.*834C>A	ENSP00000507143.1:n.*834C>A
ENST00000684313.1:n.2163C>A
ENST00000684332.1:n.2804C>A
ENST00000684371.1:n.2837C>A
ENST00000684404.1:n.2728C>A
ENST00000684442.1:n.2731C>A
ENST00000684555.1:c.*874C>A	ENSP00000507705.1:n.*874C>A
ENST00000684571.1:c.2503C>A	ENSP00000506935.1:p.His835Asn
ENST00000684593.1:c.*2367C>A	ENSP00000507005.1:n.*2367C>A
ENST00000684711.1:c.*1058C>A	ENSP00000506841.1:n.*1058C>A
ENST00000302539.9:c.2665C>A	ENSP00000303960.4:p.His889Asn
ENST00000389817.8:c.2662C>A MANE Select	ENSP00000374467.4:p.His888Asn
ENST00000642271.1:c.2659C>A	ENSP00000493749.1:p.His887Asn
ENST00000642579.1:c.746C>A
ENST00000642611.1:n.2616C>A
ENST00000642902.1:c.2497C>A
ENST00000643260.1:c.2662C>A	ENSP00000494450.1:p.His888Asn
ENST00000643562.1:c.*638C>A	ENSP00000496124.1:n.*638C>A
ENST00000643925.1:c.706C>A
ENST00000644447.1:c.1018C>A	ENSP00000496282.1:p.His340Asn
ENST00000644472.1:c.*1023C>A	ENSP00000495378.1:n.*1023C>A
ENST00000644484.1:c.*871C>A	ENSP00000493558.1:n.*871C>A
ENST00000644542.1:c.*2367C>A	ENSP00000495532.1:n.*2367C>A
ENST00000644675.1:c.*834C>A	ENSP00000494567.1:n.*834C>A
ENST00000644757.1:c.*967C>A	ENSP00000495085.1:n.*967C>A
ENST00000644772.1:c.2728C>A	ENSP00000494321.1:p.His910Asn
ENST00000645076.1:c.1914C>A
ENST00000645744.1:c.*1026C>A	ENSP00000494564.1:n.*1026C>A
ENST00000645760.1:c.2937C>A
ENST00000645884.1:c.2662C>A	ENSP00000495516.1:p.His888Asn
ENST00000646003.1:c.*718C>A	ENSP00000495259.1:n.*718C>A
ENST00000646207.1:c.*1026C>A	ENSP00000495025.1:n.*1026C>A
ENST00000646276.1:c.*935C>A	ENSP00000496070.1:n.*935C>A
ENST00000646592.1:c.1888C>A
ENST00000646902.1:c.2659C>A	ENSP00000494101.1:p.His887Asn
ENST00000646993.1:c.*1058C>A	ENSP00000493720.1:n.*1058C>A
ENST00000647013.1:c.2668C>A	ENSP00000496741.1:n.2668C>A
ENST00000647015.1:c.2413C>A	ENSP00000495389.1:p.His805Asn
ENST00000647086.1:c.*2392C>A	ENSP00000493677.1:n.*2392C>A
ENST00000647158.1:c.*803C>A	ENSP00000495744.1:n.*803C>A
ENST00000302539.8:c.2665C>A	ENSP00000303960.4:p.His889Asn
ENST00000389817.7:c.2662C>A	ENSP00000374467.3:p.His888Asn
ENST00000526921.5:n.346C>A
ENST00000527905.5:c.2632C>A	ENSP00000431653.1:p.His878Asn
ENST00000529967.5:n.331C>A
ENST00000530147.5:n.245C>A
NM_000352.4:c.2662C>A	NP_000343.2:p.His888Asn
NM_001287174.1:c.2665C>A	NP_001274103.1:p.His889Asn
XM_011520331.1:c.2662C>A	XP_011518633.1:p.His888Asn
XM_011520332.1:c.2665C>A	XP_011518634.1:p.His889Asn
XM_011520333.1:c.1162C>A	XP_011518635.1:p.His388Asn
XM_011520334.1:c.2665C>A	XP_011518636.1:p.His889Asn
XR_930890.1:n.2728C>A
XR_930891.1:n.2728C>A
XR_930892.1:n.2728C>A
XR_930893.1:n.2725C>A
NM_001351295.1:c.2728C>A	NP_001338224.1:p.His910Asn
NM_001351296.1:c.2662C>A	NP_001338225.1:p.His888Asn
NM_001351297.1:c.2659C>A	NP_001338226.1:p.His887Asn
NR_147094.1:n.2731C>A
XM_017018197.2:c.2731C>A	XP_016873686.1:p.His911Asn
XM_017018199.1:c.2728C>A	XP_016873688.1:p.His910Asn
XM_017018201.2:c.2731C>A	XP_016873690.1:p.His911Asn
XM_017018202.1:c.1228C>A	XP_016873691.1:p.His410Asn
XM_017018204.1:c.619C>A	XP_016873693.1:p.His207Asn
XM_024448668.1:c.1030C>A	XP_024304436.1:p.His344Asn
XR_001747945.2:n.2803C>A
XR_001747946.2:n.2734C>A
XR_002957189.1:n.2803C>A
NM_000352.6:c.2662C>A MANE Select	NP_000343.2:p.His888Asn
NM_001287174.2:c.2665C>A	NP_001274103.1:p.His889Asn
NM_001351295.2:c.2728C>A	NP_001338224.1:p.His910Asn
NM_001351296.2:c.2662C>A	NP_001338225.1:p.His888Asn
NM_001351297.2:c.2659C>A	NP_001338226.1:p.His887Asn
NR_147094.2:n.2731C>A
NM_001287174.3:c.2665C>A	NP_001274103.1:p.His889Asn