Canonical Allele Identifier: CA228441
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 100279
ClinVar RCV Id: RCV000086675 RCV000678765 RCV001823113 RCV002247493 RCV002281924 RCV002490753 RCV004549528
dbSNP Id: rs61749370
ExAC: 12:6128787 G / T
gnomAD v2: 12-6128787-G-T
gnomAD v3: 12-6019621-G-T
gnomAD v4: 12-6019621-G-T
MyVariant Identifiers: chr12:g.6128787G>T (hg19) chr12:g.6019621G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019621G>T , CM000674.2:g.6019621G>T GRCh38
NC_000012.11:g.6128787G>T , CM000674.1:g.6128787G>T GRCh37
NC_000012.10:g.5999048G>T NCBI36
NG_009072.1:g.110050C>A
NG_009072.2:g.110050C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3797C>A MANE Select ENSP00000261405.5:p.Pro1266Gln
ENST00000261405.9:c.3797C>A ENSP00000261405.5:p.Pro1266Gln
ENST00000538635.5:n.421-25687C>A
ENST00000539641.1:n.595C>A
NM_000552.3:c.3797C>A NP_000543.2:p.Pro1266Gln
NM_000552.4:c.3797C>A NP_000543.2:p.Pro1266Gln
NM_000552.5:c.3797C>A MANE Select NP_000543.3:p.Pro1266Gln
Search 100 bp 5'
Search 100 bp 3'