Canonical Allele Identifier: CA6402976

Gene: VWF

Linked Data

• ClinVar Variation Id: 1335095
• ClinVar RCV Id: RCV001816112 ; RCV003482163
• dbSNP Id: rs201892996
• ExAC: 12:6140736 G / A
• gnomAD v2: 12-6140736-G-A
• gnomAD v3: 12-6031570-G-A
• gnomAD v4: 12-6031570-G-A
• MyVariant Identifiers: chr12:g.6140736G>A (hg19) ; chr12:g.6031570G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6031570G>A , CM000674.2:g.6031570G>A	GRCh38
NC_000012.11:g.6140736G>A , CM000674.1:g.6140736G>A	GRCh37
NC_000012.10:g.6010997G>A	NCBI36
NG_009072.1:g.98101C>T
NG_009072.2:g.98101C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.2694C>T MANE Select	ENSP00000261405.5:p.Cys898=
ENST00000261405.9:c.2694C>T	ENSP00000261405.5:p.Cys898=
ENST00000538635.5:n.421-37636C>T
NM_000552.3:c.2694C>T	NP_000543.2:p.Cys898=
NM_000552.4:c.2694C>T	NP_000543.2:p.Cys898=
NM_000552.5:c.2694C>T MANE Select	NP_000543.3:p.Cys898=