Canonical Allele Identifier: CA228478
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 100298
ClinVar RCV Id: RCV000086697
dbSNP Id: rs267607336
MyVariant Identifiers: chr12:g.6128674T>C (hg19) chr12:g.6019508T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019508T>C , CM000674.2:g.6019508T>C GRCh38
NC_000012.11:g.6128674T>C , CM000674.1:g.6128674T>C GRCh37
NC_000012.10:g.5998935T>C NCBI36
NG_009072.1:g.110163A>G
NG_009072.2:g.110163A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.3910A>G MANE Select ENSP00000261405.5:p.Met1304Val
ENST00000261405.9:c.3910A>G ENSP00000261405.5:p.Met1304Val
ENST00000538635.5:n.421-25574A>G
NM_000552.3:c.3910A>G NP_000543.2:p.Met1304Val
NM_000552.4:c.3910A>G NP_000543.2:p.Met1304Val
NM_000552.5:c.3910A>G MANE Select NP_000543.3:p.Met1304Val
Search 100 bp 5'
Search 100 bp 3'