Canonical Allele Identifier: CA228760
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 100450
ClinVar RCV Id: RCV000086862 RCV000765102 RCV002265605 RCV003387761
dbSNP Id: rs61750625
ExAC: 12:6094771 G / A
gnomAD v2: 12-6094771-G-A
gnomAD v3: 12-5985605-G-A
gnomAD v4: 12-5985605-G-A
MyVariant Identifiers: chr12:g.6094771G>A (hg19) chr12:g.5985605G>A (hg38)
ERepo: CA228760/MONDO:0019565/090
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5985605G>A , CM000674.2:g.5985605G>A GRCh38
NC_000012.11:g.6094771G>A , CM000674.1:g.6094771G>A GRCh37
NC_000012.10:g.5965032G>A NCBI36
NG_009072.1:g.144066C>T
NG_009072.2:g.144066C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.6859C>T MANE Select ENSP00000261405.5:p.Arg2287Trp
ENST00000261405.9:c.6859C>T ENSP00000261405.5:p.Arg2287Trp
NM_000552.3:c.6859C>T NP_000543.2:p.Arg2287Trp
NM_000552.4:c.6859C>T NP_000543.2:p.Arg2287Trp
NM_000552.5:c.6859C>T MANE Select NP_000543.3:p.Arg2287Trp
Search 100 bp 5'
Search 100 bp 3'