Canonical Allele Identifier: CA6401508
Gene: VWF HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.5967573G>A
GRCh37 chr12:g.6076739G>A
gnomAD v2:
12:6076739 G / A
gnomAD v3:
12:5967573 G / A
gnomAD v4:
chr12-5967573-G-A
Joint Max Group AF 0.00165039 (EAS)
Genomes Max Group AF 0.00224936 (EAS)
Exomes Max Group AF 0.00145366 (EAS)
ClinVar RCV:
RCV000337134
ClinVar Variation:
310036
dbSNP:
200209213
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5967573G>A , CM000674.2:g.5967573G>A GRCh38
NC_000012.11:g.6076739G>A , CM000674.1:g.6076739G>A GRCh37
NC_000012.10:g.5947000G>A NCBI36
NG_009072.1:g.162098C>T
NG_009072.2:g.162098C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.7800C>T MANE Select ENSP00000261405.5:p.Cys2600=
ENST00000261405.9:c.7800C>T ENSP00000261405.5:p.Cys2600=
ENST00000621700.1:n.118C>T
NM_000552.3:c.7800C>T NP_000543.2:p.Cys2600=
NM_000552.4:c.7800C>T NP_000543.2:p.Cys2600=
NM_000552.5:c.7800C>T MANE Select NP_000543.3:p.Cys2600=
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