Canonical Allele Identifier: CA383498030
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 1065248
ClinVar RCV Id: RCV001787166
dbSNP Id: rs750364485
gnomAD v4: 12-6057885-G-A
MyVariant Identifiers: chr12:g.6167051G>A (hg19) chr12:g.6057885G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6057885G>A , CM000674.2:g.6057885G>A GRCh38
NC_000012.11:g.6167051G>A , CM000674.1:g.6167051G>A GRCh37
NC_000012.10:g.6037312G>A NCBI36
NG_009072.1:g.71786C>T
NG_009072.2:g.71786C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1693C>T MANE Select ENSP00000261405.5:p.Gln565Ter
ENST00000261405.9:c.1693C>T ENSP00000261405.5:p.Gln565Ter
ENST00000538635.5:n.420+52630C>T
NM_000552.3:c.1693C>T NP_000543.2:p.Gln565Ter
NM_000552.4:c.1693C>T NP_000543.2:p.Gln565Ter
NM_000552.5:c.1693C>T MANE Select NP_000543.3:p.Gln565Ter
Search 100 bp 5'
Search 100 bp 3'