Canonical Allele Identifier: CA228710
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 100423
dbSNP Id: rs61750605
gnomAD v4: 12-6016223-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6016223A>G , CM000674.2:g.6016223A>G GRCh38
NC_000012.11:g.6125389A>G , CM000674.1:g.6125389A>G GRCh37
NC_000012.10:g.5995650A>G NCBI36
NG_009072.1:g.113448T>C
NG_009072.2:g.113448T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.5321T>C MANE Select ENSP00000261405.5:p.Leu1774Ser
ENST00000261405.9:c.5321T>C ENSP00000261405.5:p.Leu1774Ser
ENST00000538635.5:n.421-22289T>C
NM_000552.3:c.5321T>C NP_000543.2:p.Leu1774Ser
NM_000552.4:c.5321T>C NP_000543.2:p.Leu1774Ser
NM_000552.5:c.5321T>C MANE Select NP_000543.3:p.Leu1774Ser