Canonical Allele Identifier: CA379801282

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17428194T>G (hg19) ; chr11:g.17406647T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17406647T>G , CM000673.2:g.17406647T>G	GRCh38
NC_000011.9:g.17428194T>G , CM000673.1:g.17428194T>G	GRCh37
NC_000011.8:g.17384770T>G	NCBI36
NG_008867.1:g.75256A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2873A>C
ENST00000529967.6:n.1643A>C
ENST00000532220.2:n.1036A>C
ENST00000642611.2:n.3373A>C
ENST00000645004.2:n.803A>C
ENST00000682051.1:n.3320A>C
ENST00000682110.1:n.3373A>C
ENST00000682140.1:c.3301A>C	ENSP00000507829.1:p.Asn1101His
ENST00000682185.1:n.4609A>C
ENST00000682204.1:c.*1442A>C	ENSP00000507094.1:n.*1442A>C
ENST00000682215.1:n.3370A>C
ENST00000682288.1:c.*1735A>C	ENSP00000507506.1:n.*1735A>C
ENST00000682442.1:n.3593A>C
ENST00000682528.1:n.3450A>C
ENST00000682673.1:n.3317A>C
ENST00000682805.1:n.3370A>C
ENST00000682965.1:c.3301A>C	ENSP00000508229.1:p.Asn1101His
ENST00000683093.1:n.3472A>C
ENST00000683136.1:c.3301A>C	ENSP00000507768.1:p.Asn1101His
ENST00000683153.1:n.3529A>C
ENST00000683365.1:n.3475A>C
ENST00000683377.1:n.3373A>C
ENST00000683456.1:c.*441A>C	ENSP00000508318.1:n.*441A>C
ENST00000683522.1:n.3373A>C
ENST00000683562.1:c.*1473A>C	ENSP00000508265.1:n.*1473A>C
ENST00000683693.1:n.3450A>C
ENST00000683725.1:c.3304A>C	ENSP00000507496.1:p.Asn1102His
ENST00000684010.1:n.3368A>C
ENST00000684157.1:n.3373A>C
ENST00000684253.1:n.3276A>C
ENST00000684288.1:c.*1476A>C	ENSP00000507143.1:n.*1476A>C
ENST00000684313.1:n.2805A>C
ENST00000684332.1:n.3446A>C
ENST00000684371.1:n.3479A>C
ENST00000684404.1:n.3416A>C
ENST00000684442.1:n.3373A>C
ENST00000684555.1:c.*1516A>C	ENSP00000507705.1:n.*1516A>C
ENST00000684571.1:c.3145A>C	ENSP00000506935.1:p.Asn1049His
ENST00000684593.1:c.*3009A>C	ENSP00000507005.1:n.*3009A>C
ENST00000684711.1:c.*1700A>C	ENSP00000506841.1:n.*1700A>C
ENST00000302539.9:c.3307A>C	ENSP00000303960.4:p.Asn1103His
ENST00000389817.8:c.3304A>C MANE Select	ENSP00000374467.4:p.Asn1102His
ENST00000642271.1:c.3301A>C	ENSP00000493749.1:p.Asn1101His
ENST00000642579.1:c.1388A>C
ENST00000642611.1:n.3258A>C
ENST00000642902.1:c.3086A>C
ENST00000643260.1:c.3304A>C	ENSP00000494450.1:p.Asn1102His
ENST00000643562.1:c.*1280A>C	ENSP00000496124.1:n.*1280A>C
ENST00000643925.1:c.1428A>C
ENST00000644447.1:c.1660A>C	ENSP00000496282.1:p.Asn554His
ENST00000644484.1:c.*1559A>C	ENSP00000493558.1:n.*1559A>C
ENST00000644542.1:c.*3108A>C	ENSP00000495532.1:n.*3108A>C
ENST00000644675.1:c.*1476A>C	ENSP00000494567.1:n.*1476A>C
ENST00000644757.1:c.*1589A>C	ENSP00000495085.1:n.*1589A>C
ENST00000644772.1:c.3370A>C	ENSP00000494321.1:p.Asn1124His
ENST00000645004.1:n.443A>C
ENST00000645076.1:c.2503A>C
ENST00000645417.1:c.470A>C
ENST00000645744.1:c.*1568A>C	ENSP00000494564.1:n.*1568A>C
ENST00000645760.1:c.3579A>C
ENST00000645884.1:c.*441A>C	ENSP00000495516.1:n.*441A>C
ENST00000646003.1:c.*1260A>C	ENSP00000495259.1:n.*1260A>C
ENST00000646207.1:c.*1771A>C	ENSP00000495025.1:n.*1771A>C
ENST00000646276.1:c.*1577A>C	ENSP00000496070.1:n.*1577A>C
ENST00000646592.1:c.2610A>C
ENST00000646902.1:c.3301A>C	ENSP00000494101.1:p.Asn1101His
ENST00000646993.1:c.*1700A>C	ENSP00000493720.1:n.*1700A>C
ENST00000647013.1:c.3310A>C	ENSP00000496741.1:n.3310A>C
ENST00000647015.1:c.3055A>C	ENSP00000495389.1:p.Asn1019His
ENST00000647086.1:c.*3034A>C	ENSP00000493677.1:n.*3034A>C
ENST00000647158.1:c.*1445A>C	ENSP00000495744.1:n.*1445A>C
ENST00000302539.8:c.3307A>C	ENSP00000303960.4:p.Asn1103His
ENST00000389817.7:c.3304A>C	ENSP00000374467.3:p.Asn1102His
ENST00000524561.1:n.436A>C
ENST00000527905.5:c.*180A>C	ENSP00000431653.1:n.*180A>C
NM_000352.4:c.3304A>C	NP_000343.2:p.Asn1102His
NM_001287174.1:c.3307A>C	NP_001274103.1:p.Asn1103His
XM_011520331.1:c.3304A>C	XP_011518633.1:p.Asn1102His
XM_011520332.1:c.3307A>C	XP_011518634.1:p.Asn1103His
XM_011520333.1:c.1804A>C	XP_011518635.1:p.Asn602His
XR_930890.1:n.3370A>C
XR_930891.1:n.3370A>C
XR_930892.1:n.3270A>C
XR_930893.1:n.3267A>C
NM_001351295.1:c.3370A>C	NP_001338224.1:p.Asn1124His
NM_001351296.1:c.3304A>C	NP_001338225.1:p.Asn1102His
NM_001351297.1:c.3301A>C	NP_001338226.1:p.Asn1101His
NR_147094.1:n.3453A>C
XM_017018197.2:c.3373A>C	XP_016873686.1:p.Asn1125His
XM_017018199.1:c.3370A>C	XP_016873688.1:p.Asn1124His
XM_017018201.2:c.3373A>C	XP_016873690.1:p.Asn1125His
XM_017018202.1:c.1870A>C	XP_016873691.1:p.Asn624His
XM_017018204.1:c.1261A>C	XP_016873693.1:p.Asn421His
XM_024448668.1:c.1672A>C	XP_024304436.1:p.Asn558His
XR_001747945.2:n.3445A>C
XR_001747946.2:n.3376A>C
XR_002957189.1:n.3525A>C
NM_000352.6:c.3304A>C MANE Select	NP_000343.2:p.Asn1102His
NM_001287174.2:c.3307A>C	NP_001274103.1:p.Asn1103His
NM_001351295.2:c.3370A>C	NP_001338224.1:p.Asn1124His
NM_001351296.2:c.3304A>C	NP_001338225.1:p.Asn1102His
NM_001351297.2:c.3301A>C	NP_001338226.1:p.Asn1101His
NR_147094.2:n.3453A>C
NM_001287174.3:c.3307A>C	NP_001274103.1:p.Asn1103His