Canonical Allele Identifier: CA2537773931
Gene: VWF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018316T>A , CM000674.2:g.6018316T>A GRCh38
NC_000012.11:g.6127482T>A , CM000674.1:g.6127482T>A GRCh37
NC_000012.10:g.5997743T>A NCBI36
NG_009072.1:g.111355A>T
NG_009072.2:g.111355A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.5053+49A>T MANE Select ENSP00000261405.5:n.5053+49A>T
ENST00000261405.9:c.5053+49A>T ENSP00000261405.5:n.5053+49A>T
ENST00000538635.5:n.421-24382A>T
NM_000552.3:c.5053+49A>T NP_000543.2:n.5053+49A>T
NM_000552.4:c.5053+49A>T NP_000543.2:n.5053+49A>T
NM_000552.5:c.5053+49A>T MANE Select NP_000543.3:n.5053+49A>T