Canonical Allele Identifier: CA603482948

Gene: VWF

Linked Data

• dbSNP Id: rs1451382033
• gnomAD v2: 12-6127504-C-G
• gnomAD v4: 12-6018338-C-G
• MyVariant Identifiers: chr12:g.6127504C>G (hg19) ; chr12:g.6018338C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6018338C>G , CM000674.2:g.6018338C>G	GRCh38
NC_000012.11:g.6127504C>G , CM000674.1:g.6127504C>G	GRCh37
NC_000012.10:g.5997765C>G	NCBI36
NG_009072.1:g.111333G>C
NG_009072.2:g.111333G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.5053+27G>C MANE Select	ENSP00000261405.5:n.5053+27G>C
ENST00000261405.9:c.5053+27G>C	ENSP00000261405.5:n.5053+27G>C
ENST00000538635.5:n.421-24404G>C
NM_000552.3:c.5053+27G>C	NP_000543.2:n.5053+27G>C
NM_000552.4:c.5053+27G>C	NP_000543.2:n.5053+27G>C
NM_000552.5:c.5053+27G>C MANE Select	NP_000543.3:n.5053+27G>C