Canonical Allele Identifier: CA383495541

Gene: VWF

Linked Data

• MyVariant Identifiers: chr12:g.6125356A>T (hg19) ; chr12:g.6016190A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6016190A>T , CM000674.2:g.6016190A>T	GRCh38
NC_000012.11:g.6125356A>T , CM000674.1:g.6125356A>T	GRCh37
NC_000012.10:g.5995617A>T	NCBI36
NG_009072.1:g.113481T>A
NG_009072.2:g.113481T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.5354T>A MANE Select	ENSP00000261405.5:p.Met1785Lys
ENST00000261405.9:c.5354T>A	ENSP00000261405.5:p.Met1785Lys
ENST00000538635.5:n.421-22256T>A
NM_000552.3:c.5354T>A	NP_000543.2:p.Met1785Lys
NM_000552.4:c.5354T>A	NP_000543.2:p.Met1785Lys
NM_000552.5:c.5354T>A MANE Select	NP_000543.3:p.Met1785Lys