Canonical Allele Identifier: CA504021370

Gene: ATP8B1

Linked Data

• ClinVar Variation Id: 2748633
• ClinVar RCV Id: RCV003566073
• dbSNP Id: rs1403529702
• gnomAD v2: 18-55342238-C-T
• gnomAD v3: 18-57675006-C-T
• gnomAD v4: 18-57675006-C-T
• MyVariant Identifiers: chr18:g.55342238C>T (hg19) ; chr18:g.57675006C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.57675006C>T , CM000680.2:g.57675006C>T	GRCh38
NC_000018.9:g.55342238C>T , CM000680.1:g.55342238C>T	GRCh37
NC_000018.8:g.53493236C>T	NCBI36
NG_007148.2:g.133090G>A
NG_007148.3:g.133817G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000642462.1:c.1647G>A	ENSP00000494712.1:p.Gln549=
ENST00000648039.1:c.1647G>A	ENSP00000497863.1:p.Gln549=
ENST00000648467.1:c.1512G>A
ENST00000648908.2:c.1647G>A MANE Select	ENSP00000497896.1:p.Gln549=
ENST00000283684.8:c.1647G>A	ENSP00000283684.4:p.Gln549=
ENST00000536015.5:c.1647G>A	ENSP00000445359.1:p.Gln549=
NM_005603.4:c.1647G>A	NP_005594.1:p.Gln549=
XM_006722481.2:c.1647G>A	XP_006722544.1:p.Gln549=
XM_011526020.1:c.1647G>A	XP_011524322.1:p.Gln549=
XM_011526021.1:c.1647G>A	XP_011524323.1:p.Gln549=
XM_011526022.1:c.1647G>A	XP_011524324.1:p.Gln549=
XM_011526023.1:c.1533G>A	XP_011524325.1:p.Gln511=
XM_011526024.1:c.927G>A	XP_011524326.1:p.Gln309=
NM_005603.6:c.1647G>A	NP_005594.2:p.Gln549=
XM_006722481.4:c.1647G>A	XP_006722544.1:p.Gln549=
XM_011526023.3:c.1533G>A	XP_011524325.1:p.Gln511=
NM_001374385.1:c.1647G>A MANE Select	NP_001361314.1:p.Gln549=
NM_001374386.1:c.1497G>A	NP_001361315.1:p.Gln499=