Canonical Allele Identifier: CA228429
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 100272
ClinVar RCV Id: RCV000086668
dbSNP Id: rs267607333
MyVariant Identifiers: chr12:g.6131067A>C (hg19) chr12:g.6021901A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6021901A>C , CM000674.2:g.6021901A>C GRCh38
NC_000012.11:g.6131067A>C , CM000674.1:g.6131067A>C GRCh37
NC_000012.10:g.6001328A>C NCBI36
NG_009072.1:g.107770T>G
NG_009072.2:g.107770T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.3673T>G MANE Select ENSP00000261405.5:p.Cys1225Gly
ENST00000261405.9:c.3673T>G ENSP00000261405.5:p.Cys1225Gly
ENST00000538635.5:n.421-27967T>G
ENST00000539641.1:n.26T>G
NM_000552.3:c.3673T>G NP_000543.2:p.Cys1225Gly
NM_000552.4:c.3673T>G NP_000543.2:p.Cys1225Gly
NM_000552.5:c.3673T>G MANE Select NP_000543.3:p.Cys1225Gly
Search 100 bp 5'
Search 100 bp 3'