Canonical Allele Identifier: CA6403339

Gene: VWF

Linked Data

• ClinVar Variation Id: 439323
• ClinVar RCV Id: RCV000507666 ; RCV004023423
• dbSNP Id: rs148591481
• ExAC: 12:6167182 C / G
• gnomAD v2: 12-6167182-C-G
• gnomAD v3: 12-6058016-C-G
• gnomAD v4: 12-6058016-C-G
• MyVariant Identifiers: chr12:g.6167182C>G (hg19) ; chr12:g.6058016C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6058016C>G , CM000674.2:g.6058016C>G	GRCh38
NC_000012.11:g.6167182C>G , CM000674.1:g.6167182C>G	GRCh37
NC_000012.10:g.6037443C>G	NCBI36
NG_009072.1:g.71655G>C
NG_009072.2:g.71655G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.1562G>C MANE Select	ENSP00000261405.5:p.Cys521Ser
ENST00000261405.9:c.1562G>C	ENSP00000261405.5:p.Cys521Ser
ENST00000538635.5:n.420+52499G>C
NM_000552.3:c.1562G>C	NP_000543.2:p.Cys521Ser
NM_000552.4:c.1562G>C	NP_000543.2:p.Cys521Ser
NM_000552.5:c.1562G>C MANE Select	NP_000543.3:p.Cys521Ser