Canonical Allele Identifier: CA228276

Gene: VWF

Linked Data

• ClinVar Variation Id: 100183
• ClinVar RCV Id: RCV000086567 ; RCV001787041
• dbSNP Id: rs61754009
• ExAC: 12:6167213 G / T
• gnomAD v2: 12-6167213-G-T
• gnomAD v3: 12-6058047-G-T
• gnomAD v4: 12-6058047-G-T
• MyVariant Identifiers: chr12:g.6167213G>T (hg19) ; chr12:g.6058047G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6058047G>T , CM000674.2:g.6058047G>T	GRCh38
NC_000012.11:g.6167213G>T , CM000674.1:g.6167213G>T	GRCh37
NC_000012.10:g.6037474G>T	NCBI36
NG_009072.1:g.71624C>A
NG_009072.2:g.71624C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.1534-3C>A MANE Select	ENSP00000261405.5:n.1534-3C>A
ENST00000261405.9:c.1534-3C>A	ENSP00000261405.5:n.1534-3C>A
ENST00000538635.5:n.420+52468C>A
NM_000552.3:c.1534-3C>A	NP_000543.2:n.1534-3C>A
NM_000552.4:c.1534-3C>A	NP_000543.2:n.1534-3C>A
NM_000552.5:c.1534-3C>A MANE Select	NP_000543.3:n.1534-3C>A