Canonical Allele Identifier: CA383498393
Gene: VWF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6058034A>G , CM000674.2:g.6058034A>G GRCh38
NC_000012.11:g.6167200A>G , CM000674.1:g.6167200A>G GRCh37
NC_000012.10:g.6037461A>G NCBI36
NG_009072.1:g.71637T>C
NG_009072.2:g.71637T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1544T>C MANE Select ENSP00000261405.5:p.Val515Ala
ENST00000261405.9:c.1544T>C ENSP00000261405.5:p.Val515Ala
ENST00000538635.5:n.420+52481T>C
NM_000552.3:c.1544T>C NP_000543.2:p.Val515Ala
NM_000552.4:c.1544T>C NP_000543.2:p.Val515Ala
NM_000552.5:c.1544T>C MANE Select NP_000543.3:p.Val515Ala