Canonical Allele Identifier: CA228535

Gene: VWF

Linked Data

• ClinVar Variation Id: 100327
• ClinVar RCV Id: RCV000086732 ; RCV000678769 ; RCV002243736 ; RCV003226195
• dbSNP Id: rs61750070
• ExAC: 12:6128469 A / C
• gnomAD v2: 12-6128469-A-C
• gnomAD v3: 12-6019303-A-C
• gnomAD v4: 12-6019303-A-C
• MyVariant Identifiers: chr12:g.6128469A>C (hg19) ; chr12:g.6019303A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6019303A>C , CM000674.2:g.6019303A>C	GRCh38
NC_000012.11:g.6128469A>C , CM000674.1:g.6128469A>C	GRCh37
NC_000012.10:g.5998730A>C	NCBI36
NG_009072.1:g.110368T>G
NG_009072.2:g.110368T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.4115T>G MANE Select	ENSP00000261405.5:p.Ile1372Ser
ENST00000261405.9:c.4115T>G	ENSP00000261405.5:p.Ile1372Ser
ENST00000538635.5:n.421-25369T>G
NM_000552.3:c.4115T>G	NP_000543.2:p.Ile1372Ser
NM_000552.4:c.4115T>G	NP_000543.2:p.Ile1372Ser
NM_000552.5:c.4115T>G MANE Select	NP_000543.3:p.Ile1372Ser