Canonical Allele Identifier: CA383498395

Gene: VWF

Linked Data

• gnomAD v4: 12-6058035-C-A
• MyVariant Identifiers: chr12:g.6167201C>A (hg19) ; chr12:g.6058035C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6058035C>A , CM000674.2:g.6058035C>A	GRCh38
NC_000012.11:g.6167201C>A , CM000674.1:g.6167201C>A	GRCh37
NC_000012.10:g.6037462C>A	NCBI36
NG_009072.1:g.71636G>T
NG_009072.2:g.71636G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.1543G>T MANE Select	ENSP00000261405.5:p.Val515Phe
ENST00000261405.9:c.1543G>T	ENSP00000261405.5:p.Val515Phe
ENST00000538635.5:n.420+52480G>T
NM_000552.3:c.1543G>T	NP_000543.2:p.Val515Phe
NM_000552.4:c.1543G>T	NP_000543.2:p.Val515Phe
NM_000552.5:c.1543G>T MANE Select	NP_000543.3:p.Val515Phe