Canonical Allele Identifier: CA383495172
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 2682119
ClinVar RCV Id: RCV003477411
dbSNP Id: rs1226550750
gnomAD v2: 12-6125303-C-T
gnomAD v3: 12-6016137-C-T
gnomAD v4: 12-6016137-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6016137C>T , CM000674.2:g.6016137C>T GRCh38
NC_000012.11:g.6125303C>T , CM000674.1:g.6125303C>T GRCh37
NC_000012.10:g.5995564C>T NCBI36
NG_009072.1:g.113534G>A
NG_009072.2:g.113534G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.5407G>A MANE Select ENSP00000261405.5:p.Val1803Ile
ENST00000261405.9:c.5407G>A ENSP00000261405.5:p.Val1803Ile
ENST00000538635.5:n.421-22203G>A
NM_000552.3:c.5407G>A NP_000543.2:p.Val1803Ile
NM_000552.4:c.5407G>A NP_000543.2:p.Val1803Ile
NM_000552.5:c.5407G>A MANE Select NP_000543.3:p.Val1803Ile