Canonical Allele Identifier: CA672820743

Gene: VWA5A

Linked Data

• dbSNP Id: rs1442930369
• gnomAD v3: 11-124146701-G-C
• gnomAD v4: 11-124146701-G-C
• MyVariant Identifiers: chr11:g.124017408G>C (hg19) ; chr11:g.124146701G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.124146701G>C , CM000673.2:g.124146701G>C	GRCh38
NC_000011.9:g.124017408G>C , CM000673.1:g.124017408G>C	GRCh37
NC_000011.8:g.123522618G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000456829.7:c.*756G>C MANE Select	ENSP00000407726.2:n.*756G>C
ENST00000392748.5:c.*756G>C	ENSP00000376504.1:n.*756G>C
ENST00000456829.6:c.*756G>C	ENSP00000407726.2:n.*756G>C
NM_001130142.1:c.*756G>C	NP_001123614.1:n.*756G>C
NM_014622.4:c.*756G>C	NP_055437.2:n.*756G>C
XM_011542828.1:c.*756G>C	XP_011541130.1:n.*756G>C
XM_011542828.2:c.*756G>C	XP_011541130.1:n.*756G>C
NM_001130142.2:c.*756G>C MANE Select	NP_001123614.1:n.*756G>C
NM_014622.5:c.*756G>C	NP_055437.2:n.*756G>C