Canonical Allele Identifier: CA944318404
Gene: VWF HGNC NCBI

Linked Data

gnomAD v3: 12-6018318-C-A
gnomAD v4: 12-6018318-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018318C>A , CM000674.2:g.6018318C>A GRCh38
NC_000012.11:g.6127484C>A , CM000674.1:g.6127484C>A GRCh37
NC_000012.10:g.5997745C>A NCBI36
NG_009072.1:g.111353G>T
NG_009072.2:g.111353G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.5053+47G>T MANE Select ENSP00000261405.5:n.5053+47G>T
ENST00000261405.9:c.5053+47G>T ENSP00000261405.5:n.5053+47G>T
ENST00000538635.5:n.421-24384G>T
NM_000552.3:c.5053+47G>T NP_000543.2:n.5053+47G>T
NM_000552.4:c.5053+47G>T NP_000543.2:n.5053+47G>T
NM_000552.5:c.5053+47G>T MANE Select NP_000543.3:n.5053+47G>T
Search 100 bp 5'
Search 100 bp 3'