Canonical Allele Identifier: CA6403594
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 256705
ClinVar RCV Id: RCV000248163 RCV001812686 RCV002244067 RCV002244069 RCV002244068
dbSNP Id: rs55907031
ExAC: 12:6181635 G / A
gnomAD v2: 12-6181635-G-A
gnomAD v3: 12-6072469-G-A
gnomAD v4: 12-6072469-G-A
MyVariant Identifiers: chr12:g.6181635G>A (hg19) chr12:g.6072469G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6072469G>A , CM000674.2:g.6072469G>A GRCh38
NC_000012.11:g.6181635G>A , CM000674.1:g.6181635G>A GRCh37
NC_000012.10:g.6051896G>A NCBI36
NG_009072.1:g.57202C>T
NG_009072.2:g.57202C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.998-27C>T MANE Select ENSP00000261405.5:n.998-27C>T
ENST00000261405.9:c.998-27C>T ENSP00000261405.5:n.998-27C>T
ENST00000538635.5:n.420+38046C>T
NM_000552.3:c.998-27C>T NP_000543.2:n.998-27C>T
NM_000552.4:c.998-27C>T NP_000543.2:n.998-27C>T
NM_000552.5:c.998-27C>T MANE Select NP_000543.3:n.998-27C>T
Search 100 bp 5'
Search 100 bp 3'