Canonical Allele Identifier: CA383495690

Gene: VWF

Linked Data

• gnomAD v4: 12-6016215-C-T
• MyVariant Identifiers: chr12:g.6125381C>T (hg19) ; chr12:g.6016215C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6016215C>T , CM000674.2:g.6016215C>T	GRCh38
NC_000012.11:g.6125381C>T , CM000674.1:g.6125381C>T	GRCh37
NC_000012.10:g.5995642C>T	NCBI36
NG_009072.1:g.113456G>A
NG_009072.2:g.113456G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.5329G>A MANE Select	ENSP00000261405.5:p.Ala1777Thr
ENST00000261405.9:c.5329G>A	ENSP00000261405.5:p.Ala1777Thr
ENST00000538635.5:n.421-22281G>A
NM_000552.3:c.5329G>A	NP_000543.2:p.Ala1777Thr
NM_000552.4:c.5329G>A	NP_000543.2:p.Ala1777Thr
NM_000552.5:c.5329G>A MANE Select	NP_000543.3:p.Ala1777Thr