Canonical Allele Identifier: CA8974703

Gene: ATP8B1

Linked Data

• ClinVar Variation Id: 289557
• ClinVar RCV Id: RCV000263650 ; RCV000766301 ; RCV001122637 ; RCV004549616
• dbSNP Id: rs150860808
• ExAC: 18:55362430 A / T
• gnomAD v2: 18-55362430-A-T
• gnomAD v3: 18-57695198-A-T
• gnomAD v4: 18-57695198-A-T
• MyVariant Identifiers: chr18:g.55362430A>T (hg19) ; chr18:g.57695198A>T (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57695198A>T , CM000680.2:g.57695198A>T	GRCh38
NC_000018.9:g.55362430A>T , CM000680.1:g.55362430A>T	GRCh37
NC_000018.8:g.53513428A>T	NCBI36
NG_007148.2:g.112898T>A
NG_007148.3:g.113625T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642462.1:c.913T>A	ENSP00000494712.1:p.Phe305Ile
ENST00000648039.1:c.913T>A	ENSP00000497863.1:p.Phe305Ile
ENST00000648467.1:c.746T>A
ENST00000648908.2:c.913T>A MANE Select	ENSP00000497896.1:p.Phe305Ile
ENST00000283684.8:c.913T>A	ENSP00000283684.4:p.Phe305Ile
ENST00000536015.5:c.913T>A	ENSP00000445359.1:p.Phe305Ile
NM_005603.4:c.913T>A	NP_005594.1:p.Phe305Ile
XM_006722481.2:c.913T>A	XP_006722544.1:p.Phe305Ile
XM_011526020.1:c.913T>A	XP_011524322.1:p.Phe305Ile
XM_011526021.1:c.913T>A	XP_011524323.1:p.Phe305Ile
XM_011526022.1:c.913T>A	XP_011524324.1:p.Phe305Ile
XM_011526023.1:c.799T>A	XP_011524325.1:p.Phe267Ile
XM_011526024.1:c.193T>A	XP_011524326.1:p.Phe65Ile
XR_935525.1:n.32-747A>T
XR_935526.1:n.32-747A>T
NM_005603.6:c.913T>A	NP_005594.2:p.Phe305Ile
XM_006722481.4:c.913T>A	XP_006722544.1:p.Phe305Ile
XM_011526023.3:c.799T>A	XP_011524325.1:p.Phe267Ile
NM_001374385.1:c.913T>A MANE Select	NP_001361314.1:p.Phe305Ile
NM_001374386.1:c.763T>A	NP_001361315.1:p.Phe255Ile