Canonical Allele Identifier: CA228816

Gene: VWF

Linked Data

• ClinVar Variation Id: 100485
• ClinVar RCV Id: RCV000086899 ; RCV001787080
• dbSNP Id: rs267607366
• gnomAD v4: 12-5968168-C-G
• MyVariant Identifiers: chr12:g.6077334C>G (hg19) ; chr12:g.5968168C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5968168C>G , CM000674.2:g.5968168C>G	GRCh38
NC_000012.11:g.6077334C>G , CM000674.1:g.6077334C>G	GRCh37
NC_000012.10:g.5947595C>G	NCBI36
NG_009072.1:g.161503G>C
NG_009072.2:g.161503G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.7730-1G>C MANE Select	ENSP00000261405.5:n.7730-1G>C
ENST00000261405.9:c.7730-1G>C	ENSP00000261405.5:n.7730-1G>C
ENST00000621700.1:n.47G>C
NM_000552.3:c.7730-1G>C	NP_000543.2:n.7730-1G>C
NM_000552.4:c.7730-1G>C	NP_000543.2:n.7730-1G>C
NM_000552.5:c.7730-1G>C MANE Select	NP_000543.3:n.7730-1G>C