Canonical Allele Identifier: CA379780985

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17414601C>A (hg19) ; chr11:g.17393054C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393054C>A , CM000673.2:g.17393054C>A	GRCh38
NC_000011.9:g.17414601C>A , CM000673.1:g.17414601C>A	GRCh37
NC_000011.8:g.17371177C>A	NCBI36
NG_008867.1:g.88849G>T
NG_012446.1:g.606G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4284G>T
ENST00000526037.6:n.618G>T
ENST00000528374.2:c.1274G>T
ENST00000529967.6:n.3022G>T
ENST00000532220.2:n.3916G>T
ENST00000642611.2:n.6016G>T
ENST00000644057.2:n.1259G>T
ENST00000645004.2:n.2182G>T
ENST00000682051.1:n.4845G>T
ENST00000682110.1:n.4898G>T
ENST00000682140.1:c.*469G>T	ENSP00000507829.1:n.*469G>T
ENST00000682185.1:n.5988G>T
ENST00000682204.1:c.*2821G>T	ENSP00000507094.1:n.*2821G>T
ENST00000682215.1:n.5265G>T
ENST00000682288.1:c.*3114G>T	ENSP00000507506.1:n.*3114G>T
ENST00000682442.1:n.5118G>T
ENST00000682528.1:n.4975G>T
ENST00000682673.1:n.4842G>T
ENST00000682805.1:n.5303G>T
ENST00000682965.1:c.*1105G>T	ENSP00000508229.1:n.*1105G>T
ENST00000683093.1:n.5878G>T
ENST00000683136.1:c.4566G>T	ENSP00000507768.1:p.Lys1522Asn
ENST00000683153.1:n.4940G>T
ENST00000683365.1:n.5000G>T
ENST00000683377.1:n.4794G>T
ENST00000683456.1:c.*1820G>T	ENSP00000508318.1:n.*1820G>T
ENST00000683522.1:n.4980G>T
ENST00000683562.1:c.*2748G>T	ENSP00000508265.1:n.*2748G>T
ENST00000683693.1:n.6359G>T
ENST00000683725.1:c.*148G>T	ENSP00000507496.1:n.*148G>T
ENST00000684010.1:n.4893G>T
ENST00000684014.1:n.870G>T
ENST00000684157.1:n.5883G>T
ENST00000684253.1:n.4801G>T
ENST00000684288.1:c.*2855G>T	ENSP00000507143.1:n.*2855G>T
ENST00000684313.1:n.4330G>T
ENST00000684332.1:n.4971G>T
ENST00000684371.1:n.5004G>T
ENST00000684404.1:n.5926G>T
ENST00000684442.1:n.5122G>T
ENST00000684555.1:c.*2895G>T	ENSP00000507705.1:n.*2895G>T
ENST00000684571.1:c.4524G>T	ENSP00000506935.1:p.Lys1508Asn
ENST00000684593.1:c.*4388G>T	ENSP00000507005.1:n.*4388G>T
ENST00000684711.1:c.*3079G>T	ENSP00000506841.1:n.*3079G>T
ENST00000302539.9:c.4686G>T	ENSP00000303960.4:p.Lys1562Asn
ENST00000389817.8:c.4683G>T MANE Select	ENSP00000374467.4:p.Lys1561Asn
ENST00000642271.1:c.4680G>T	ENSP00000493749.1:p.Lys1560Asn
ENST00000642579.1:c.2737G>T
ENST00000642611.1:n.5901G>T
ENST00000642902.1:c.4465G>T
ENST00000643260.1:c.4683G>T	ENSP00000494450.1:p.Lys1561Asn
ENST00000643562.1:c.*2805G>T	ENSP00000496124.1:n.*2805G>T
ENST00000643925.1:c.3260G>T
ENST00000644057.1:n.842G>T
ENST00000644484.1:c.*4069G>T	ENSP00000493558.1:n.*4069G>T
ENST00000644675.1:c.*2855G>T	ENSP00000494567.1:n.*2855G>T
ENST00000644757.1:c.*3203-74G>T	ENSP00000495085.1:n.*3203-74G>T
ENST00000644772.1:c.4749G>T	ENSP00000494321.1:p.Lys1583Asn
ENST00000645004.1:n.2376G>T
ENST00000645076.1:c.3778G>T
ENST00000645760.1:c.5104G>T
ENST00000645884.1:c.*1966G>T	ENSP00000495516.1:n.*1966G>T
ENST00000646003.1:c.*2705G>T	ENSP00000495259.1:n.*2705G>T
ENST00000646207.1:c.*3520G>T	ENSP00000495025.1:n.*3520G>T
ENST00000646592.1:c.3989G>T
ENST00000646902.1:c.4650G>T	ENSP00000494101.1:p.Lys1550Asn
ENST00000646993.1:c.*3121G>T	ENSP00000493720.1:n.*3121G>T
ENST00000647015.1:c.4434G>T	ENSP00000495389.1:p.Lys1478Asn
ENST00000647086.1:c.*4269G>T	ENSP00000493677.1:n.*4269G>T
ENST00000302539.8:c.4686G>T	ENSP00000303960.4:p.Lys1562Asn
ENST00000389817.7:c.4683G>T	ENSP00000374467.3:p.Lys1561Asn
ENST00000525022.1:n.662G>T
ENST00000526037.5:n.443G>T
ENST00000526168.5:c.471G>T
ENST00000531642.5:c.714G>T
NM_000352.4:c.4683G>T	NP_000343.2:p.Lys1561Asn
NM_001287174.1:c.4686G>T	NP_001274103.1:p.Lys1562Asn
XM_011520331.1:c.4683G>T	XP_011518633.1:p.Lys1561Asn
XM_011520333.1:c.3183G>T	XP_011518635.1:p.Lys1061Asn
XR_930890.1:n.4645G>T
NM_001351295.1:c.4749G>T	NP_001338224.1:p.Lys1583Asn
NM_001351296.1:c.4683G>T	NP_001338225.1:p.Lys1561Asn
NM_001351297.1:c.4680G>T	NP_001338226.1:p.Lys1560Asn
NR_147094.1:n.4978G>T
XM_017018197.2:c.4752G>T	XP_016873686.1:p.Lys1584Asn
XM_017018199.1:c.4749G>T	XP_016873688.1:p.Lys1583Asn
XM_017018202.1:c.3249G>T	XP_016873691.1:p.Lys1083Asn
XM_017018204.1:c.2640G>T	XP_016873693.1:p.Lys880Asn
XM_024448668.1:c.3051G>T	XP_024304436.1:p.Lys1017Asn
XR_001747945.2:n.4720G>T
XR_001747946.2:n.4651G>T
XR_002957189.1:n.6434G>T
NM_000352.6:c.4683G>T MANE Select	NP_000343.2:p.Lys1561Asn
NM_001287174.2:c.4686G>T	NP_001274103.1:p.Lys1562Asn
NM_001351295.2:c.4749G>T	NP_001338224.1:p.Lys1583Asn
NM_001351296.2:c.4683G>T	NP_001338225.1:p.Lys1561Asn
NM_001351297.2:c.4680G>T	NP_001338226.1:p.Lys1560Asn
NR_147094.2:n.4978G>T
NM_001287174.3:c.4686G>T	NP_001274103.1:p.Lys1562Asn