Canonical Allele Identifier: CA6403395
Gene: VWF HGNC NCBI
COSMIC:
COSM431631 (not active)
MyVariant.info:
GRCh38 chr12:g.6063036T>C
GRCh37 chr12:g.6172202T>C
Revel Score:
ENST00000261405 (MANE Select) 0.063
gnomAD v2:
12:6172202 T / C
gnomAD v3:
12:6063036 T / C
gnomAD v4:
chr12-6063036-T-C
Joint Max Group AF 0.70074993 (SAS)
Genomes Max Group AF 0.68725587 (SAS)
Exomes Max Group AF 0.70052838 (SAS)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1451A>G MANE Select ENSP00000261405.5:p.His484Arg
ENST00000261405.9:c.1451A>G ENSP00000261405.5:p.His484Arg
ENST00000538635.5:n.420+47479A>G
NM_000552.3:c.1451A>G NP_000543.2:p.His484Arg
NM_000552.4:c.1451A>G NP_000543.2:p.His484Arg
NM_000552.5:c.1451A>G MANE Select NP_000543.3:p.His484Arg
Search 100 bp 5'
Search 100 bp 3'