Canonical Allele Identifier: CA478104027

Gene: VWF

Linked Data

• dbSNP Id: rs1249082643
• MyVariant Identifiers: chr12:g.6167082C>T (hg19) ; chr12:g.6057916C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6057916C>T , CM000674.2:g.6057916C>T	GRCh38
NC_000012.11:g.6167082C>T , CM000674.1:g.6167082C>T	GRCh37
NC_000012.10:g.6037343C>T	NCBI36
NG_009072.1:g.71755G>A
NG_009072.2:g.71755G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.1662G>A MANE Select	ENSP00000261405.5:p.Lys554=
ENST00000261405.9:c.1662G>A	ENSP00000261405.5:p.Lys554=
ENST00000538635.5:n.420+52599G>A
NM_000552.3:c.1662G>A	NP_000543.2:p.Lys554=
NM_000552.4:c.1662G>A	NP_000543.2:p.Lys554=
NM_000552.5:c.1662G>A MANE Select	NP_000543.3:p.Lys554=