Canonical Allele Identifier: CA10604008

Gene: VWF

Linked Data

• ClinVar Variation Id: 281929
• ClinVar RCV Id: RCV000291213 ; RCV000307103 ; RCV001820811
• dbSNP Id: rs79275181
• gnomAD v3: 12-6018369-T-G
• gnomAD v4: 12-6018369-T-G
• MyVariant Identifiers: chr12:g.6127535T>G (hg19) ; chr12:g.6018369T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6018369T>G , CM000674.2:g.6018369T>G	GRCh38
NC_000012.11:g.6127535T>G , CM000674.1:g.6127535T>G	GRCh37
NC_000012.10:g.5997796T>G	NCBI36
NG_009072.1:g.111302A>C
NG_009072.2:g.111302A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.5049A>C MANE Select	ENSP00000261405.5:p.Ala1683=
ENST00000261405.9:c.5049A>C	ENSP00000261405.5:p.Ala1683=
ENST00000538635.5:n.421-24435A>C
NM_000552.3:c.5049A>C	NP_000543.2:p.Ala1683=
NM_000552.4:c.5049A>C	NP_000543.2:p.Ala1683=
NM_000552.5:c.5049A>C MANE Select	NP_000543.3:p.Ala1683=