Canonical Allele Identifier: CA478493935

Gene: VWF

Linked Data

• MyVariant Identifiers: chr12:g.6127538A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6018372A>C , CM000674.2:g.6018372A>C	GRCh38
NC_000012.11:g.6127538A>C , CM000674.1:g.6127538A>C	GRCh37
NC_000012.10:g.5997799A>C	NCBI36
NG_009072.1:g.111299T>G
NG_009072.2:g.111299T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261405.10:c.5046T>G MANE Select	ENSP00000261405.5:p.Pro1682=
ENST00000261405.9:c.5046T>G	ENSP00000261405.5:p.Pro1682=
ENST00000538635.5:n.421-24438T>G
NM_000552.3:c.5046T>G	NP_000543.2:p.Pro1682=
NM_000552.4:c.5046T>G	NP_000543.2:p.Pro1682=
NM_000552.5:c.5046T>G MANE Select	NP_000543.3:p.Pro1682=