Canonical Allele Identifier: CA213464
Gene: ABCC8 HGNC NCBI

Linked Data

ClinVar Variation Id: 35621
ClinVar RCV Id: RCV000029268
dbSNP Id: rs193922406

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17393752A>C , CM000673.2:g.17393752A>C GRCh38
NC_000011.9:g.17415299A>C , CM000673.1:g.17415299A>C GRCh37
NC_000011.8:g.17371875A>C NCBI36
NG_008867.1:g.88151T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000302539.9:c.4556T>G ENSP00000303960.4:p.Ile1519Ser
ENST00000389817.8:c.4553T>G MANE Select ENSP00000374467.4:p.Ile1518Ser
ENST00000642271.1:c.4550T>G ENSP00000493749.1:p.Ile1517Ser
ENST00000642579.1:n.2607T>G
ENST00000642611.1:n.5771T>G
ENST00000642902.1:n.4335T>G
ENST00000643260.1:c.4553T>G ENSP00000494450.1:p.Ile1518Ser
ENST00000643562.1:c.*2675T>G ENSP00000496124.1:p.=
ENST00000643925.1:n.3185+514T>G
ENST00000644057.1:n.712T>G
ENST00000644484.1:c.*3939T>G ENSP00000493558.1:p.=
ENST00000644675.1:c.*2725T>G ENSP00000494567.1:p.=
ENST00000644757.1:c.*3203-772T>G ENSP00000495085.1:p.=
ENST00000644772.1:c.4619T>G ENSP00000494321.1:p.Ile1540Ser
ENST00000645004.1:n.2246T>G
ENST00000645076.1:n.3648T>G
ENST00000645417.1:n.1741T>G
ENST00000645744.1:c.*4238T>G ENSP00000494564.1:p.=
ENST00000645760.1:n.4974T>G
ENST00000645884.1:c.*1836T>G ENSP00000495516.1:p.=
ENST00000646003.1:c.*2575T>G ENSP00000495259.1:p.=
ENST00000646207.1:c.*3390T>G ENSP00000495025.1:p.=
ENST00000646276.1:c.*3957T>G ENSP00000496070.1:p.=
ENST00000646592.1:n.3859T>G
ENST00000646902.1:c.4520T>G ENSP00000494101.1:p.Ile1507Ser
ENST00000646993.1:c.*2991T>G ENSP00000493720.1:p.=
ENST00000647015.1:c.4304T>G ENSP00000495389.1:p.Ile1435Ser
ENST00000647086.1:c.*4139T>G ENSP00000493677.1:p.=
ENST00000647158.1:c.*2840T>G ENSP00000495744.1:p.=
ENST00000302539.8:c.4556T>G ENSP00000303960.4:p.Ile1519Ser
ENST00000389817.7:c.4553T>G ENSP00000374467.3:p.Ile1518Ser
ENST00000525022.1:n.448T>G
ENST00000526037.5:n.313T>G
ENST00000526168.5:n.341T>G
ENST00000531642.5:n.584T>G
NM_000352.4:c.4553T>G NP_000343.2:p.Ile1518Ser
NM_001287174.1:c.4556T>G NP_001274103.1:p.Ile1519Ser
XM_011520331.1:c.4553T>G XP_011518633.1:p.Ile1518Ser
XM_011520333.1:c.3053T>G XP_011518635.1:p.Ile1018Ser
XR_930890.1:n.4515T>G
NM_001351295.1:c.4619T>G NP_001338224.1:p.Ile1540Ser
NM_001351296.1:c.4553T>G NP_001338225.1:p.Ile1518Ser
NM_001351297.1:c.4550T>G NP_001338226.1:p.Ile1517Ser
NR_147094.1:n.4848T>G
XM_017018197.2:c.4622T>G XP_016873686.1:p.Ile1541Ser
XM_017018199.1:c.4619T>G XP_016873688.1:p.Ile1540Ser
XM_017018202.1:c.3119T>G XP_016873691.1:p.Ile1040Ser
XM_017018204.1:c.2510T>G XP_016873693.1:p.Ile837Ser
XM_024448668.1:c.2921T>G XP_024304436.1:p.Ile974Ser
XR_001747945.2:n.4590T>G
XR_001747946.2:n.4521T>G
XR_002957189.1:n.6304T>G
NM_000352.6:c.4553T>G MANE Select NP_000343.2:p.Ile1518Ser
NM_001287174.2:c.4556T>G NP_001274103.1:p.Ile1519Ser
NM_001351295.2:c.4619T>G NP_001338224.1:p.Ile1540Ser
NM_001351296.2:c.4553T>G NP_001338225.1:p.Ile1518Ser
NM_001351297.2:c.4550T>G NP_001338226.1:p.Ile1517Ser
NR_147094.2:n.4848T>G
NM_001287174.3:c.4556T>G NP_001274103.1:p.Ile1519Ser