Canonical Allele Identifier: CA6403319
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 381621
ClinVar RCV Id: RCV000760113 RCV000765104 RCV000852047 RCV002264696 RCV003147455 RCV003323534 RCV003422399
dbSNP Id: rs141649383
ExAC: 12:6167119 G / C
gnomAD v2: 12-6167119-G-C
gnomAD v3: 12-6057953-G-C
gnomAD v4: 12-6057953-G-C
MyVariant Identifiers: chr12:g.6167119G>C (hg19) chr12:g.6057953G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6057953G>C , CM000674.2:g.6057953G>C GRCh38
NC_000012.11:g.6167119G>C , CM000674.1:g.6167119G>C GRCh37
NC_000012.10:g.6037380G>C NCBI36
NG_009072.1:g.71718C>G
NG_009072.2:g.71718C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.1625C>G MANE Select ENSP00000261405.5:p.Ala542Gly
ENST00000261405.9:c.1625C>G ENSP00000261405.5:p.Ala542Gly
ENST00000538635.5:n.420+52562C>G
NM_000552.3:c.1625C>G NP_000543.2:p.Ala542Gly
NM_000552.4:c.1625C>G NP_000543.2:p.Ala542Gly
NM_000552.5:c.1625C>G MANE Select NP_000543.3:p.Ala542Gly
Search 100 bp 5'
Search 100 bp 3'