Canonical Allele Identifier: CA16606745

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 393099
• ClinVar RCV Id: RCV000426325 ; RCV000626321
• dbSNP Id: rs1021025464
• gnomAD v2: 13-52586149-T-C
• gnomAD v3: 13-52012013-T-C
• gnomAD v4: 13-52012013-T-C
• MyVariant Identifiers: chr13:g.52586149T>C (hg19) ; chr13:g.52012013T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52012013T>C , CM000675.2:g.52012013T>C	GRCh38
NC_000013.10:g.52586149T>C , CM000675.1:g.52586149T>C	GRCh37
NC_000013.9:g.51484150T>C	NCBI36
NG_008806.1:g.4482A>G
NG_028038.1:g.4627T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000635406.1:n.106+7A>G
XM_005266430.3:c.-55+7A>G	XP_005266487.1:n.-55+7A>G
XM_005266430.4:c.-55+7A>G	XP_005266487.1:n.-55+7A>G