Canonical Allele Identifier: CA383503536

Gene: VWF

Linked Data

• ClinVar Variation Id: 439338
• ClinVar RCV Id: RCV000506329 ; RCV001563671 ; RCV003447537
• dbSNP Id: rs61750081
• gnomAD v2: 12-6128337-A-G
• gnomAD v4: 12-6019171-A-G
• MyVariant Identifiers: chr12:g.6128337A>G (hg19) ; chr12:g.6019171A>G (hg38)
• PubMed: PMID:22537243 ; PMID:23355534

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6019171A>G , CM000674.2:g.6019171A>G	GRCh38
NC_000012.11:g.6128337A>G , CM000674.1:g.6128337A>G	GRCh37
NC_000012.10:g.5998598A>G	NCBI36
NG_009072.1:g.110500T>C
NG_009072.2:g.110500T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.4247T>C MANE Select	ENSP00000261405.5:p.Ile1416Thr
ENST00000261405.9:c.4247T>C	ENSP00000261405.5:p.Ile1416Thr
ENST00000538635.5:n.421-25237T>C
NM_000552.3:c.4247T>C	NP_000543.2:p.Ile1416Thr
NM_000552.4:c.4247T>C	NP_000543.2:p.Ile1416Thr
NM_000552.5:c.4247T>C MANE Select	NP_000543.3:p.Ile1416Thr