Canonical Allele Identifier: CA478104083

Gene: VWF

Linked Data

• dbSNP Id: rs1354347427
• MyVariant Identifiers: chr12:g.6167184G>A (hg19) ; chr12:g.6058018G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6058018G>A , CM000674.2:g.6058018G>A	GRCh38
NC_000012.11:g.6167184G>A , CM000674.1:g.6167184G>A	GRCh37
NC_000012.10:g.6037445G>A	NCBI36
NG_009072.1:g.71653C>T
NG_009072.2:g.71653C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.1560C>T MANE Select	ENSP00000261405.5:p.Thr520=
ENST00000261405.9:c.1560C>T	ENSP00000261405.5:p.Thr520=
ENST00000538635.5:n.420+52497C>T
NM_000552.3:c.1560C>T	NP_000543.2:p.Thr520=
NM_000552.4:c.1560C>T	NP_000543.2:p.Thr520=
NM_000552.5:c.1560C>T MANE Select	NP_000543.3:p.Thr520=