Canonical Allele Identifier: CA5903139

Gene: ABCC8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17413435C>T , CM000673.2:g.17413435C>T	GRCh38
NC_000011.9:g.17434982C>T , CM000673.1:g.17434982C>T	GRCh37
NC_000011.8:g.17391558C>T	NCBI36
NG_008867.1:g.68468G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000352.6:c.2434G>A MANE Select	NP_000343.2:p.Asp812Asn
ENST00000389817.8:c.2434G>A MANE Select	ENSP00000374467.4:p.Asp812Asn
NM_000352.4:c.2434G>A	NP_000343.2:p.Asp812Asn
NM_001287174.1:c.2437G>A	NP_001274103.1:p.Asp813Asn
NM_001287174.2:c.2437G>A	NP_001274103.1:p.Asp813Asn
NM_001287174.3:c.2437G>A	NP_001274103.1:p.Asp813Asn
NM_001351295.1:c.2500G>A	NP_001338224.1:p.Asp834Asn
NM_001351295.2:c.2500G>A	NP_001338224.1:p.Asp834Asn
NM_001351296.1:c.2434G>A	NP_001338225.1:p.Asp812Asn
NM_001351296.2:c.2434G>A	NP_001338225.1:p.Asp812Asn
NM_001351297.1:c.2431G>A	NP_001338226.1:p.Asp811Asn
NM_001351297.2:c.2431G>A	NP_001338226.1:p.Asp811Asn
NR_147094.1:n.2503G>A
NR_147094.2:n.2503G>A
ENST00000302539.8:c.2437G>A	ENSP00000303960.4:p.Asp813Asn
ENST00000302539.9:c.2437G>A	ENSP00000303960.4:p.Asp813Asn
ENST00000389817.7:c.2434G>A	ENSP00000374467.3:p.Asp812Asn
ENST00000524561.2:n.2103G>A
ENST00000526921.5:n.118G>A
ENST00000527905.5:c.2404G>A	ENSP00000431653.1:p.Asp802Asn
ENST00000529967.5:n.103G>A
ENST00000529967.6:n.693G>A
ENST00000530147.5:n.58+44G>A
ENST00000531911.1:n.548G>A
ENST00000642271.1:c.2431G>A	ENSP00000493749.1:p.Asp811Asn
ENST00000642579.1:c.518G>A
ENST00000642611.1:n.2388G>A
ENST00000642611.2:n.2503G>A
ENST00000642902.1:c.2269G>A
ENST00000643260.1:c.2434G>A	ENSP00000494450.1:p.Asp812Asn
ENST00000643562.1:c.*410G>A	ENSP00000496124.1:n.*410G>A
ENST00000643925.1:c.374G>A
ENST00000644447.1:c.790G>A	ENSP00000496282.1:p.Asp264Asn
ENST00000644472.1:c.*795G>A	ENSP00000495378.1:n.*795G>A
ENST00000644484.1:c.*643G>A	ENSP00000493558.1:n.*643G>A
ENST00000644542.1:c.*2139G>A	ENSP00000495532.1:n.*2139G>A
ENST00000644675.1:c.*606G>A	ENSP00000494567.1:n.*606G>A
ENST00000644757.1:c.*739G>A	ENSP00000495085.1:n.*739G>A
ENST00000644772.1:c.2500G>A	ENSP00000494321.1:p.Asp834Asn
ENST00000645076.1:c.1686G>A
ENST00000645744.1:c.*798G>A	ENSP00000494564.1:n.*798G>A
ENST00000645760.1:c.2709G>A
ENST00000645884.1:c.2434G>A	ENSP00000495516.1:p.Asp812Asn
ENST00000646003.1:c.*532-689G>A	ENSP00000495259.1:n.*532-689G>A
ENST00000646207.1:c.*798G>A	ENSP00000495025.1:n.*798G>A
ENST00000646276.1:c.*707G>A	ENSP00000496070.1:n.*707G>A
ENST00000646592.1:c.1660G>A
ENST00000646902.1:c.2431G>A	ENSP00000494101.1:p.Asp811Asn
ENST00000646993.1:c.*830G>A	ENSP00000493720.1:n.*830G>A
ENST00000647013.1:c.2440G>A	ENSP00000496741.1:n.2440G>A
ENST00000647015.1:c.2185G>A	ENSP00000495389.1:p.Asp729Asn
ENST00000647086.1:c.*2164G>A	ENSP00000493677.1:n.*2164G>A
ENST00000647158.1:c.*575G>A	ENSP00000495744.1:n.*575G>A
ENST00000682051.1:n.2450G>A
ENST00000682110.1:n.2503G>A
ENST00000682140.1:c.2431G>A	ENSP00000507829.1:p.Asp811Asn
ENST00000682185.1:n.3739G>A
ENST00000682204.1:c.*572G>A	ENSP00000507094.1:n.*572G>A
ENST00000682215.1:n.2500G>A
ENST00000682288.1:c.*865G>A	ENSP00000507506.1:n.*865G>A
ENST00000682442.1:n.2624G>A
ENST00000682528.1:n.2500G>A
ENST00000682673.1:n.2447G>A
ENST00000682805.1:n.2500G>A
ENST00000682965.1:c.2431G>A	ENSP00000508229.1:p.Asp811Asn
ENST00000683093.1:n.2602G>A
ENST00000683136.1:c.2431G>A	ENSP00000507768.1:p.Asp811Asn
ENST00000683153.1:n.2659G>A
ENST00000683365.1:n.2605G>A
ENST00000683377.1:n.2503G>A
ENST00000683456.1:c.2434G>A	ENSP00000508318.1:p.Asp812Asn
ENST00000683522.1:n.2503G>A
ENST00000683562.1:c.*603G>A	ENSP00000508265.1:n.*603G>A
ENST00000683693.1:n.2500G>A
ENST00000683725.1:c.2434G>A	ENSP00000507496.1:p.Asp812Asn
ENST00000684010.1:n.2460-689G>A
ENST00000684157.1:n.2503G>A
ENST00000684253.1:n.2406G>A
ENST00000684288.1:c.*606G>A	ENSP00000507143.1:n.*606G>A
ENST00000684313.1:n.1935G>A
ENST00000684332.1:n.2576G>A
ENST00000684371.1:n.2609G>A
ENST00000684404.1:n.2500G>A
ENST00000684442.1:n.2503G>A
ENST00000684555.1:c.*646G>A	ENSP00000507705.1:n.*646G>A
ENST00000684571.1:c.2275G>A	ENSP00000506935.1:p.Asp759Asn
ENST00000684593.1:c.*2139G>A	ENSP00000507005.1:n.*2139G>A
ENST00000684711.1:c.*830G>A	ENSP00000506841.1:n.*830G>A
XM_011520331.1:c.2434G>A	XP_011518633.1:p.Asp812Asn
XM_011520332.1:c.2437G>A	XP_011518634.1:p.Asp813Asn
XM_011520333.1:c.934G>A	XP_011518635.1:p.Asp312Asn
XM_011520334.1:c.2437G>A	XP_011518636.1:p.Asp813Asn
XM_017018197.2:c.2503G>A	XP_016873686.1:p.Asp835Asn
XM_017018199.1:c.2500G>A	XP_016873688.1:p.Asp834Asn
XM_017018201.2:c.2503G>A	XP_016873690.1:p.Asp835Asn
XM_017018202.1:c.1000G>A	XP_016873691.1:p.Asp334Asn
XM_017018204.1:c.391G>A	XP_016873693.1:p.Asp131Asn
XM_024448668.1:c.802G>A	XP_024304436.1:p.Asp268Asn
XR_001747945.2:n.2575G>A
XR_001747946.2:n.2506G>A
XR_002957189.1:n.2575G>A
XR_930890.1:n.2500G>A
XR_930891.1:n.2500G>A
XR_930892.1:n.2500G>A
XR_930893.1:n.2497G>A