Canonical Allele Identifier: CA383520336

Gene: VWF

Linked Data

• gnomAD v4: 12-6036418-C-T
• MyVariant Identifiers: chr12:g.6145584C>T (hg19) ; chr12:g.6036418C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6036418C>T , CM000674.2:g.6036418C>T	GRCh38
NC_000012.11:g.6145584C>T , CM000674.1:g.6145584C>T	GRCh37
NC_000012.10:g.6015845C>T	NCBI36
NG_009072.1:g.93253G>A
NG_009072.2:g.93253G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.2516G>A MANE Select	ENSP00000261405.5:p.Gly839Glu
ENST00000261405.9:c.2516G>A	ENSP00000261405.5:p.Gly839Glu
ENST00000538635.5:n.421-42484G>A
NM_000552.3:c.2516G>A	NP_000543.2:p.Gly839Glu
NM_000552.4:c.2516G>A	NP_000543.2:p.Gly839Glu
NM_000552.5:c.2516G>A MANE Select	NP_000543.3:p.Gly839Glu