Canonical Allele Identifier: CA6401416

Gene: VWF

Linked Data

• ClinVar Variation Id: 501149
• ClinVar RCV Id: RCV000594988 ; RCV002506430 ; RCV003313785
• dbSNP Id: rs151129435
• ExAC: 12:6061636 T / C
• gnomAD v2: 12-6061636-T-C
• gnomAD v3: 12-5952470-T-C
• gnomAD v4: 12-5952470-T-C
• MyVariant Identifiers: chr12:g.6061636T>C (hg19) ; chr12:g.5952470T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5952470T>C , CM000674.2:g.5952470T>C	GRCh38
NC_000012.11:g.6061636T>C , CM000674.1:g.6061636T>C	GRCh37
NC_000012.10:g.5931897T>C	NCBI36
NG_009072.1:g.177201A>G
NG_009072.2:g.177201A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.8036A>G MANE Select	ENSP00000261405.5:p.Asn2679Ser
ENST00000261405.9:c.8036A>G	ENSP00000261405.5:p.Asn2679Ser
ENST00000612016.1:n.445A>G
ENST00000621700.1:n.354A>G
NM_000552.3:c.8036A>G	NP_000543.2:p.Asn2679Ser
NM_000552.4:c.8036A>G	NP_000543.2:p.Asn2679Ser
NM_000552.5:c.8036A>G MANE Select	NP_000543.3:p.Asn2679Ser