Canonical Allele Identifier: CA383512301
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1944159118
gnomAD v3: 12-6023762-A-G
gnomAD v4: 12-6023762-A-G
MyVariant Identifiers: chr12:g.6132928A>G (hg19) chr12:g.6023762A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023762A>G , CM000674.2:g.6023762A>G GRCh38
NC_000012.11:g.6132928A>G , CM000674.1:g.6132928A>G GRCh37
NC_000012.10:g.6003189A>G NCBI36
NG_009072.1:g.105909T>C
NG_009072.2:g.105909T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3248T>C MANE Select ENSP00000261405.5:p.Val1083Ala
ENST00000261405.9:c.3248T>C ENSP00000261405.5:p.Val1083Ala
ENST00000538635.5:n.421-29828T>C
NM_000552.3:c.3248T>C NP_000543.2:p.Val1083Ala
NM_000552.4:c.3248T>C NP_000543.2:p.Val1083Ala
NM_000552.5:c.3248T>C MANE Select NP_000543.3:p.Val1083Ala
Search 100 bp 5'
Search 100 bp 3'