Canonical Allele Identifier: CA383517774
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1376791036
gnomAD v3: 12-6031514-G-A
gnomAD v4: 12-6031514-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6031514G>A , CM000674.2:g.6031514G>A GRCh38
NC_000012.11:g.6140680G>A , CM000674.1:g.6140680G>A GRCh37
NC_000012.10:g.6010941G>A NCBI36
NG_009072.1:g.98157C>T
NG_009072.2:g.98157C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2750C>T MANE Select ENSP00000261405.5:p.Pro917Leu
ENST00000261405.9:c.2750C>T ENSP00000261405.5:p.Pro917Leu
ENST00000538635.5:n.421-37580C>T
NM_000552.3:c.2750C>T NP_000543.2:p.Pro917Leu
NM_000552.4:c.2750C>T NP_000543.2:p.Pro917Leu
NM_000552.5:c.2750C>T MANE Select NP_000543.3:p.Pro917Leu