Canonical Allele Identifier: CA228844
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 100501
ClinVar RCV Id: RCV000086915
dbSNP Id: rs61751308
MyVariant Identifiers: chr12:g.6058311C>T (hg19) chr12:g.5949145C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5949145C>T , CM000674.2:g.5949145C>T GRCh38
NC_000012.11:g.6058311C>T , CM000674.1:g.6058311C>T GRCh37
NC_000012.10:g.5928572C>T NCBI36
NG_009072.1:g.180526G>A
NG_009072.2:g.180526G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.8312G>A MANE Select ENSP00000261405.5:p.Cys2771Tyr
ENST00000261405.9:c.8312G>A ENSP00000261405.5:p.Cys2771Tyr
NM_000552.3:c.8312G>A NP_000543.2:p.Cys2771Tyr
NM_000552.4:c.8312G>A NP_000543.2:p.Cys2771Tyr
NM_000552.5:c.8312G>A MANE Select NP_000543.3:p.Cys2771Tyr
Search 100 bp 5'
Search 100 bp 3'