Canonical Allele Identifier: CA6403074

Gene: VWF

Linked Data

• ClinVar Variation Id: 1695350
• ClinVar RCV Id: RCV002264853
• dbSNP Id: rs777608246
• ExAC: 12:6153453 T / C
• gnomAD v2: 12-6153453-T-C
• gnomAD v3: 12-6044287-T-C
• gnomAD v4: 12-6044287-T-C
• MyVariant Identifiers: chr12:g.6153453T>C (hg19) ; chr12:g.6044287T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6044287T>C , CM000674.2:g.6044287T>C	GRCh38
NC_000012.11:g.6153453T>C , CM000674.1:g.6153453T>C	GRCh37
NC_000012.10:g.6023714T>C	NCBI36
NG_009072.1:g.85384A>G
NG_009072.2:g.85384A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.2442+4A>G MANE Select	ENSP00000261405.5:n.2442+4A>G
ENST00000261405.9:c.2442+4A>G	ENSP00000261405.5:n.2442+4A>G
ENST00000538635.5:n.421-50353A>G
NM_000552.3:c.2442+4A>G	NP_000543.2:n.2442+4A>G
NM_000552.4:c.2442+4A>G	NP_000543.2:n.2442+4A>G
NM_000552.5:c.2442+4A>G MANE Select	NP_000543.3:n.2442+4A>G