Canonical Allele Identifier: CA713554734

Gene: ATP8B4

Linked Data

• dbSNP Id: rs1388493376
• gnomAD v3: 15-50140344-C-G
• gnomAD v4: 15-50140344-C-G
• MyVariant Identifiers: chr15:g.50432541C>G (hg19) ; chr15:g.50140344C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50140344C>G , CM000677.2:g.50140344C>G	GRCh38
NC_000015.9:g.50432541C>G , CM000677.1:g.50432541C>G	GRCh37
NC_000015.8:g.48219833C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558829.1:c.-42-33336G>C	ENSP00000453539.1:n.-42-33336G>C
XM_011522056.1:c.-42-33336G>C	XP_011520358.1:n.-42-33336G>C
XM_011522056.3:c.-42-33336G>C	XP_011520358.3:n.-42-33336G>C
XM_017022587.2:c.-42-33336G>C	XP_016878076.2:n.-42-33336G>C