Canonical Allele Identifier: CA6402781

Gene: VWF

Linked Data

• ClinVar Variation Id: 1802692
• ClinVar RCV Id: RCV002465970
• dbSNP Id: rs755385279
• ExAC: 12:6132884 C / T
• gnomAD v2: 12-6132884-C-T
• gnomAD v3: 12-6023718-C-T
• gnomAD v4: 12-6023718-C-T
• COSMIC: COSM4044036
• MyVariant Identifiers: chr12:g.6132884C>T (hg19) ; chr12:g.6023718C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6023718C>T , CM000674.2:g.6023718C>T	GRCh38
NC_000012.11:g.6132884C>T , CM000674.1:g.6132884C>T	GRCh37
NC_000012.10:g.6003145C>T	NCBI36
NG_009072.1:g.105953G>A
NG_009072.2:g.105953G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.3292G>A MANE Select	ENSP00000261405.5:p.Ala1098Thr
ENST00000261405.9:c.3292G>A	ENSP00000261405.5:p.Ala1098Thr
ENST00000538635.5:n.421-29784G>A
NM_000552.3:c.3292G>A	NP_000543.2:p.Ala1098Thr
NM_000552.4:c.3292G>A	NP_000543.2:p.Ala1098Thr
NM_000552.5:c.3292G>A MANE Select	NP_000543.3:p.Ala1098Thr