Canonical Allele Identifier: CA478502933
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1944105773
MyVariant Identifiers: chr12:g.6128665G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019499G>A , CM000674.2:g.6019499G>A GRCh38
NC_000012.11:g.6128665G>A , CM000674.1:g.6128665G>A GRCh37
NC_000012.10:g.5998926G>A NCBI36
NG_009072.1:g.110172C>T
NG_009072.2:g.110172C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.3919C>T MANE Select ENSP00000261405.5:p.Leu1307=
ENST00000261405.9:c.3919C>T ENSP00000261405.5:p.Leu1307=
ENST00000538635.5:n.421-25565C>T
NM_000552.3:c.3919C>T NP_000543.2:p.Leu1307=
NM_000552.4:c.3919C>T NP_000543.2:p.Leu1307=
NM_000552.5:c.3919C>T MANE Select NP_000543.3:p.Leu1307=
Search 100 bp 5'
Search 100 bp 3'