Canonical Allele Identifier: CA228510
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 100314
ClinVar RCV Id: RCV000086718 RCV002222015 RCV002243734
dbSNP Id: rs61749400
ExAC: 12:6128574 G / A
gnomAD v2: 12-6128574-G-A
gnomAD v4: 12-6019408-G-A
COSMIC: COSM6379181
MyVariant Identifiers: chr12:g.6128574G>A (hg19) chr12:g.6019408G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019408G>A , CM000674.2:g.6019408G>A GRCh38
NC_000012.11:g.6128574G>A , CM000674.1:g.6128574G>A GRCh37
NC_000012.10:g.5998835G>A NCBI36
NG_009072.1:g.110263C>T
NG_009072.2:g.110263C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.4010C>T MANE Select ENSP00000261405.5:p.Pro1337Leu
ENST00000261405.9:c.4010C>T ENSP00000261405.5:p.Pro1337Leu
ENST00000538635.5:n.421-25474C>T
NM_000552.3:c.4010C>T NP_000543.2:p.Pro1337Leu
NM_000552.4:c.4010C>T NP_000543.2:p.Pro1337Leu
NM_000552.5:c.4010C>T MANE Select NP_000543.3:p.Pro1337Leu
Search 100 bp 5'
Search 100 bp 3'