Canonical Allele Identifier: CA254133
Gene: ATP8B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 7265
ClinVar RCV Id: RCV000007687 RCV000734308 RCV003473052
dbSNP Id: rs387906381
ExAC: 18:55336548 A / G
gnomAD v2: 18-55336548-A-G
gnomAD v4: 18-57669316-A-G
MyVariant Identifiers: chr18:g.55336548A>G (hg19) chr18:g.57669316A>G (hg38)
PubMed: PMID:9500542
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.57669316A>G , CM000680.2:g.57669316A>G GRCh38
NC_000018.9:g.55336548A>G , CM000680.1:g.55336548A>G GRCh37
NC_000018.8:g.53487546A>G NCBI36
NG_007148.2:g.138780T>C
NG_007148.3:g.139507T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000642462.1:c.2097+2T>C ENSP00000494712.1:n.2097+2T>C
ENST00000648039.1:c.2097+2T>C ENSP00000497863.1:n.2097+2T>C
ENST00000648908.2:c.2097+2T>C MANE Select ENSP00000497896.1:n.2097+2T>C
ENST00000283684.8:c.2097+2T>C ENSP00000283684.4:n.2097+2T>C
ENST00000536015.5:c.2097+2T>C ENSP00000445359.1:n.2097+2T>C
NM_005603.4:c.2097+2T>C NP_005594.1:n.2097+2T>C
XM_006722481.2:c.2097+2T>C XP_006722544.1:n.2097+2T>C
XM_011526020.1:c.2097+2T>C XP_011524322.1:n.2097+2T>C
XM_011526021.1:c.2097+2T>C XP_011524323.1:n.2097+2T>C
XM_011526022.1:c.2097+2T>C XP_011524324.1:n.2097+2T>C
XM_011526023.1:c.1983+2T>C XP_011524325.1:n.1983+2T>C
XM_011526024.1:c.1377+2T>C XP_011524326.1:n.1377+2T>C
NM_005603.6:c.2097+2T>C NP_005594.2:n.2097+2T>C
XM_006722481.4:c.2097+2T>C XP_006722544.1:n.2097+2T>C
XM_011526023.3:c.1983+2T>C XP_011524325.1:n.1983+2T>C
NM_001374385.1:c.2097+2T>C MANE Select NP_001361314.1:n.2097+2T>C
NM_001374386.1:c.1947+2T>C NP_001361315.1:n.1947+2T>C
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