Canonical Allele Identifier: CA6401767

Gene: VWF

Linked Data

• ClinVar Variation Id: 310043
• ClinVar RCV Id: RCV000323341 ; RCV000994797 ; RCV001787096 ; RCV003987502
• dbSNP Id: rs71581025
• ExAC: 12:6091170 C / G
• gnomAD v2: 12-6091170-C-G
• gnomAD v3: 12-5982004-C-G
• gnomAD v4: 12-5982004-C-G
• MyVariant Identifiers: chr12:g.6091170C>G (hg19) ; chr12:g.5982004C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5982004C>G , CM000674.2:g.5982004C>G	GRCh38
NC_000012.11:g.6091170C>G , CM000674.1:g.6091170C>G	GRCh37
NC_000012.10:g.5961431C>G	NCBI36
NG_009072.1:g.147667G>C
NG_009072.2:g.147667G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.7082-13G>C MANE Select	ENSP00000261405.5:n.7082-13G>C
ENST00000261405.9:c.7082-13G>C	ENSP00000261405.5:n.7082-13G>C
NM_000552.3:c.7082-13G>C	NP_000543.2:n.7082-13G>C
NM_000552.4:c.7082-13G>C	NP_000543.2:n.7082-13G>C
NM_000552.5:c.7082-13G>C MANE Select	NP_000543.3:n.7082-13G>C