Canonical Allele Identifier: CA228396

Gene: VWF

Linked Data

• ClinVar Variation Id: 100256
• ClinVar RCV Id: RCV000086649 ; RCV000851636 ; RCV002281057
• dbSNP Id: rs267607321
• gnomAD v4: 12-6023651-C-G
• MyVariant Identifiers: chr12:g.6132817C>G (hg19) ; chr12:g.6023651C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6023651C>G , CM000674.2:g.6023651C>G	GRCh38
NC_000012.11:g.6132817C>G , CM000674.1:g.6132817C>G	GRCh37
NC_000012.10:g.6003078C>G	NCBI36
NG_009072.1:g.106020G>C
NG_009072.2:g.106020G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3359G>C MANE Select	ENSP00000261405.5:p.Trp1120Ser
ENST00000261405.9:c.3359G>C	ENSP00000261405.5:p.Trp1120Ser
ENST00000538635.5:n.421-29717G>C
NM_000552.3:c.3359G>C	NP_000543.2:p.Trp1120Ser
NM_000552.4:c.3359G>C	NP_000543.2:p.Trp1120Ser
NM_000552.5:c.3359G>C MANE Select	NP_000543.3:p.Trp1120Ser