Canonical Allele Identifier: CA270442335

Gene: ATP8B4

Linked Data

• dbSNP Id: rs538463160
• gnomAD v3: 15-50140242-T-C
• gnomAD v4: 15-50140242-T-C
• MyVariant Identifiers: chr15:g.50432439T>C (hg19) ; chr15:g.50140242T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50140242T>C , CM000677.2:g.50140242T>C	GRCh38
NC_000015.9:g.50432439T>C , CM000677.1:g.50432439T>C	GRCh37
NC_000015.8:g.48219731T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000558829.1:c.-42-33234A>G	ENSP00000453539.1:n.-42-33234A>G
XM_011522056.1:c.-42-33234A>G	XP_011520358.1:n.-42-33234A>G
XM_011522056.3:c.-42-33234A>G	XP_011520358.3:n.-42-33234A>G
XM_017022587.2:c.-42-33234A>G	XP_016878076.2:n.-42-33234A>G