Canonical Allele Identifier: CA379781004

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17414602T>G (hg19) ; chr11:g.17393055T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393055T>G , CM000673.2:g.17393055T>G	GRCh38
NC_000011.9:g.17414602T>G , CM000673.1:g.17414602T>G	GRCh37
NC_000011.8:g.17371178T>G	NCBI36
NG_008867.1:g.88848A>C
NG_012446.1:g.605A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4283A>C
ENST00000526037.6:n.617A>C
ENST00000528374.2:c.1273A>C
ENST00000529967.6:n.3021A>C
ENST00000532220.2:n.3915A>C
ENST00000642611.2:n.6015A>C
ENST00000644057.2:n.1258A>C
ENST00000645004.2:n.2181A>C
ENST00000682051.1:n.4844A>C
ENST00000682110.1:n.4897A>C
ENST00000682140.1:c.*468A>C	ENSP00000507829.1:n.*468A>C
ENST00000682185.1:n.5987A>C
ENST00000682204.1:c.*2820A>C	ENSP00000507094.1:n.*2820A>C
ENST00000682215.1:n.5264A>C
ENST00000682288.1:c.*3113A>C	ENSP00000507506.1:n.*3113A>C
ENST00000682442.1:n.5117A>C
ENST00000682528.1:n.4974A>C
ENST00000682673.1:n.4841A>C
ENST00000682805.1:n.5302A>C
ENST00000682965.1:c.*1104A>C	ENSP00000508229.1:n.*1104A>C
ENST00000683093.1:n.5877A>C
ENST00000683136.1:c.4565A>C	ENSP00000507768.1:p.Lys1522Thr
ENST00000683153.1:n.4939A>C
ENST00000683365.1:n.4999A>C
ENST00000683377.1:n.4793A>C
ENST00000683456.1:c.*1819A>C	ENSP00000508318.1:n.*1819A>C
ENST00000683522.1:n.4979A>C
ENST00000683562.1:c.*2747A>C	ENSP00000508265.1:n.*2747A>C
ENST00000683693.1:n.6358A>C
ENST00000683725.1:c.*147A>C	ENSP00000507496.1:n.*147A>C
ENST00000684010.1:n.4892A>C
ENST00000684014.1:n.869A>C
ENST00000684157.1:n.5882A>C
ENST00000684253.1:n.4800A>C
ENST00000684288.1:c.*2854A>C	ENSP00000507143.1:n.*2854A>C
ENST00000684313.1:n.4329A>C
ENST00000684332.1:n.4970A>C
ENST00000684371.1:n.5003A>C
ENST00000684404.1:n.5925A>C
ENST00000684442.1:n.5121A>C
ENST00000684555.1:c.*2894A>C	ENSP00000507705.1:n.*2894A>C
ENST00000684571.1:c.4523A>C	ENSP00000506935.1:p.Lys1508Thr
ENST00000684593.1:c.*4387A>C	ENSP00000507005.1:n.*4387A>C
ENST00000684711.1:c.*3078A>C	ENSP00000506841.1:n.*3078A>C
ENST00000302539.9:c.4685A>C	ENSP00000303960.4:p.Lys1562Thr
ENST00000389817.8:c.4682A>C MANE Select	ENSP00000374467.4:p.Lys1561Thr
ENST00000642271.1:c.4679A>C	ENSP00000493749.1:p.Lys1560Thr
ENST00000642579.1:c.2736A>C
ENST00000642611.1:n.5900A>C
ENST00000642902.1:c.4464A>C
ENST00000643260.1:c.4682A>C	ENSP00000494450.1:p.Lys1561Thr
ENST00000643562.1:c.*2804A>C	ENSP00000496124.1:n.*2804A>C
ENST00000643925.1:c.3259A>C
ENST00000644057.1:n.841A>C
ENST00000644484.1:c.*4068A>C	ENSP00000493558.1:n.*4068A>C
ENST00000644675.1:c.*2854A>C	ENSP00000494567.1:n.*2854A>C
ENST00000644757.1:c.*3203-75A>C	ENSP00000495085.1:n.*3203-75A>C
ENST00000644772.1:c.4748A>C	ENSP00000494321.1:p.Lys1583Thr
ENST00000645004.1:n.2375A>C
ENST00000645076.1:c.3777A>C
ENST00000645760.1:c.5103A>C
ENST00000645884.1:c.*1965A>C	ENSP00000495516.1:n.*1965A>C
ENST00000646003.1:c.*2704A>C	ENSP00000495259.1:n.*2704A>C
ENST00000646207.1:c.*3519A>C	ENSP00000495025.1:n.*3519A>C
ENST00000646592.1:c.3988A>C
ENST00000646902.1:c.4649A>C	ENSP00000494101.1:p.Lys1550Thr
ENST00000646993.1:c.*3120A>C	ENSP00000493720.1:n.*3120A>C
ENST00000647015.1:c.4433A>C	ENSP00000495389.1:p.Lys1478Thr
ENST00000647086.1:c.*4268A>C	ENSP00000493677.1:n.*4268A>C
ENST00000302539.8:c.4685A>C	ENSP00000303960.4:p.Lys1562Thr
ENST00000389817.7:c.4682A>C	ENSP00000374467.3:p.Lys1561Thr
ENST00000525022.1:n.661A>C
ENST00000526037.5:n.442A>C
ENST00000526168.5:c.470A>C
ENST00000531642.5:c.713A>C
NM_000352.4:c.4682A>C	NP_000343.2:p.Lys1561Thr
NM_001287174.1:c.4685A>C	NP_001274103.1:p.Lys1562Thr
XM_011520331.1:c.4682A>C	XP_011518633.1:p.Lys1561Thr
XM_011520333.1:c.3182A>C	XP_011518635.1:p.Lys1061Thr
XR_930890.1:n.4644A>C
NM_001351295.1:c.4748A>C	NP_001338224.1:p.Lys1583Thr
NM_001351296.1:c.4682A>C	NP_001338225.1:p.Lys1561Thr
NM_001351297.1:c.4679A>C	NP_001338226.1:p.Lys1560Thr
NR_147094.1:n.4977A>C
XM_017018197.2:c.4751A>C	XP_016873686.1:p.Lys1584Thr
XM_017018199.1:c.4748A>C	XP_016873688.1:p.Lys1583Thr
XM_017018202.1:c.3248A>C	XP_016873691.1:p.Lys1083Thr
XM_017018204.1:c.2639A>C	XP_016873693.1:p.Lys880Thr
XM_024448668.1:c.3050A>C	XP_024304436.1:p.Lys1017Thr
XR_001747945.2:n.4719A>C
XR_001747946.2:n.4650A>C
XR_002957189.1:n.6433A>C
NM_000352.6:c.4682A>C MANE Select	NP_000343.2:p.Lys1561Thr
NM_001287174.2:c.4685A>C	NP_001274103.1:p.Lys1562Thr
NM_001351295.2:c.4748A>C	NP_001338224.1:p.Lys1583Thr
NM_001351296.2:c.4682A>C	NP_001338225.1:p.Lys1561Thr
NM_001351297.2:c.4679A>C	NP_001338226.1:p.Lys1560Thr
NR_147094.2:n.4977A>C
NM_001287174.3:c.4685A>C	NP_001274103.1:p.Lys1562Thr