Canonical Allele Identifier: CA383512304
Gene: VWF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023763C>G , CM000674.2:g.6023763C>G GRCh38
NC_000012.11:g.6132929C>G , CM000674.1:g.6132929C>G GRCh37
NC_000012.10:g.6003190C>G NCBI36
NG_009072.1:g.105908G>C
NG_009072.2:g.105908G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3247G>C MANE Select ENSP00000261405.5:p.Val1083Leu
ENST00000261405.9:c.3247G>C ENSP00000261405.5:p.Val1083Leu
ENST00000538635.5:n.421-29829G>C
NM_000552.3:c.3247G>C NP_000543.2:p.Val1083Leu
NM_000552.4:c.3247G>C NP_000543.2:p.Val1083Leu
NM_000552.5:c.3247G>C MANE Select NP_000543.3:p.Val1083Leu