Canonical Allele Identifier: CA6403396
Gene: VWF HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.6063036T>A
GRCh37 chr12:g.6172202T>A
Revel Score:
ENST00000261405 (MANE Select) 0.163
gnomAD v2:
12:6172202 T / A
gnomAD v4:
chr12-6063036-T-A
Joint Max Group AF 0.00013403 (MID)
Exomes Max Group AF 0.00014138 (MID)
ClinVar RCV:
RCV004997945
ClinVar Variation:
3572153
dbSNP:
1800378
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6063036T>A , CM000674.2:g.6063036T>A GRCh38
NC_000012.11:g.6172202T>A , CM000674.1:g.6172202T>A GRCh37
NC_000012.10:g.6042463T>A NCBI36
NG_009072.1:g.66635A>T
NG_009072.2:g.66635A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1451A>T MANE Select ENSP00000261405.5:p.His484Leu
ENST00000261405.9:c.1451A>T ENSP00000261405.5:p.His484Leu
ENST00000538635.5:n.420+47479A>T
NM_000552.3:c.1451A>T NP_000543.2:p.His484Leu
NM_000552.4:c.1451A>T NP_000543.2:p.His484Leu
NM_000552.5:c.1451A>T MANE Select NP_000543.3:p.His484Leu
Search 100 bp 5'
Search 100 bp 3'