Canonical Allele Identifier: CA379780991

Gene: ABCC8

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4283A>T
ENST00000526037.6:n.617A>T
ENST00000528374.2:c.1273A>T
ENST00000529967.6:n.3021A>T
ENST00000532220.2:n.3915A>T
ENST00000642611.2:n.6015A>T
ENST00000644057.2:n.1258A>T
ENST00000645004.2:n.2181A>T
ENST00000682051.1:n.4844A>T
ENST00000682110.1:n.4897A>T
ENST00000682140.1:c.*468A>T	ENSP00000507829.1:n.*468A>T
ENST00000682185.1:n.5987A>T
ENST00000682204.1:c.*2820A>T	ENSP00000507094.1:n.*2820A>T
ENST00000682215.1:n.5264A>T
ENST00000682288.1:c.*3113A>T	ENSP00000507506.1:n.*3113A>T
ENST00000682442.1:n.5117A>T
ENST00000682528.1:n.4974A>T
ENST00000682673.1:n.4841A>T
ENST00000682805.1:n.5302A>T
ENST00000682965.1:c.*1104A>T	ENSP00000508229.1:n.*1104A>T
ENST00000683093.1:n.5877A>T
ENST00000683136.1:c.4565A>T	ENSP00000507768.1:p.Lys1522Met
ENST00000683153.1:n.4939A>T
ENST00000683365.1:n.4999A>T
ENST00000683377.1:n.4793A>T
ENST00000683456.1:c.*1819A>T	ENSP00000508318.1:n.*1819A>T
ENST00000683522.1:n.4979A>T
ENST00000683562.1:c.*2747A>T	ENSP00000508265.1:n.*2747A>T
ENST00000683693.1:n.6358A>T
ENST00000683725.1:c.*147A>T	ENSP00000507496.1:n.*147A>T
ENST00000684010.1:n.4892A>T
ENST00000684014.1:n.869A>T
ENST00000684157.1:n.5882A>T
ENST00000684253.1:n.4800A>T
ENST00000684288.1:c.*2854A>T	ENSP00000507143.1:n.*2854A>T
ENST00000684313.1:n.4329A>T
ENST00000684332.1:n.4970A>T
ENST00000684371.1:n.5003A>T
ENST00000684404.1:n.5925A>T
ENST00000684442.1:n.5121A>T
ENST00000684555.1:c.*2894A>T	ENSP00000507705.1:n.*2894A>T
ENST00000684571.1:c.4523A>T	ENSP00000506935.1:p.Lys1508Met
ENST00000684593.1:c.*4387A>T	ENSP00000507005.1:n.*4387A>T
ENST00000684711.1:c.*3078A>T	ENSP00000506841.1:n.*3078A>T
ENST00000302539.9:c.4685A>T	ENSP00000303960.4:p.Lys1562Met
ENST00000389817.8:c.4682A>T MANE Select	ENSP00000374467.4:p.Lys1561Met
ENST00000642271.1:c.4679A>T	ENSP00000493749.1:p.Lys1560Met
ENST00000642579.1:c.2736A>T
ENST00000642611.1:n.5900A>T
ENST00000642902.1:c.4464A>T
ENST00000643260.1:c.4682A>T	ENSP00000494450.1:p.Lys1561Met
ENST00000643562.1:c.*2804A>T	ENSP00000496124.1:n.*2804A>T
ENST00000643925.1:c.3259A>T
ENST00000644057.1:n.841A>T
ENST00000644484.1:c.*4068A>T	ENSP00000493558.1:n.*4068A>T
ENST00000644675.1:c.*2854A>T	ENSP00000494567.1:n.*2854A>T
ENST00000644757.1:c.*3203-75A>T	ENSP00000495085.1:n.*3203-75A>T
ENST00000644772.1:c.4748A>T	ENSP00000494321.1:p.Lys1583Met
ENST00000645004.1:n.2375A>T
ENST00000645076.1:c.3777A>T
ENST00000645760.1:c.5103A>T
ENST00000645884.1:c.*1965A>T	ENSP00000495516.1:n.*1965A>T
ENST00000646003.1:c.*2704A>T	ENSP00000495259.1:n.*2704A>T
ENST00000646207.1:c.*3519A>T	ENSP00000495025.1:n.*3519A>T
ENST00000646592.1:c.3988A>T
ENST00000646902.1:c.4649A>T	ENSP00000494101.1:p.Lys1550Met
ENST00000646993.1:c.*3120A>T	ENSP00000493720.1:n.*3120A>T
ENST00000647015.1:c.4433A>T	ENSP00000495389.1:p.Lys1478Met
ENST00000647086.1:c.*4268A>T	ENSP00000493677.1:n.*4268A>T
ENST00000302539.8:c.4685A>T	ENSP00000303960.4:p.Lys1562Met
ENST00000389817.7:c.4682A>T	ENSP00000374467.3:p.Lys1561Met
ENST00000525022.1:n.661A>T
ENST00000526037.5:n.442A>T
ENST00000526168.5:c.470A>T
ENST00000531642.5:c.713A>T
NM_000352.4:c.4682A>T	NP_000343.2:p.Lys1561Met
NM_001287174.1:c.4685A>T	NP_001274103.1:p.Lys1562Met
XM_011520331.1:c.4682A>T	XP_011518633.1:p.Lys1561Met
XM_011520333.1:c.3182A>T	XP_011518635.1:p.Lys1061Met
XR_930890.1:n.4644A>T
NM_001351295.1:c.4748A>T	NP_001338224.1:p.Lys1583Met
NM_001351296.1:c.4682A>T	NP_001338225.1:p.Lys1561Met
NM_001351297.1:c.4679A>T	NP_001338226.1:p.Lys1560Met
NR_147094.1:n.4977A>T
XM_017018197.2:c.4751A>T	XP_016873686.1:p.Lys1584Met
XM_017018199.1:c.4748A>T	XP_016873688.1:p.Lys1583Met
XM_017018202.1:c.3248A>T	XP_016873691.1:p.Lys1083Met
XM_017018204.1:c.2639A>T	XP_016873693.1:p.Lys880Met
XM_024448668.1:c.3050A>T	XP_024304436.1:p.Lys1017Met
XR_001747945.2:n.4719A>T
XR_001747946.2:n.4650A>T
XR_002957189.1:n.6433A>T
NM_000352.6:c.4682A>T MANE Select	NP_000343.2:p.Lys1561Met
NM_001287174.2:c.4685A>T	NP_001274103.1:p.Lys1562Met
NM_001351295.2:c.4748A>T	NP_001338224.1:p.Lys1583Met
NM_001351296.2:c.4682A>T	NP_001338225.1:p.Lys1561Met
NM_001351297.2:c.4679A>T	NP_001338226.1:p.Lys1560Met
NR_147094.2:n.4977A>T
NM_001287174.3:c.4685A>T	NP_001274103.1:p.Lys1562Met