Canonical Allele Identifier: CA2794398198
Gene: VWF HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6036134G>A , CM000674.2:g.6036134G>A GRCh38
NC_000012.11:g.6145300G>A , CM000674.1:g.6145300G>A GRCh37
NC_000012.10:g.6015561G>A NCBI36
NG_009072.1:g.93537C>T
NG_009072.2:g.93537C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2546+254C>T MANE Select ENSP00000261405.5:n.2546+254C>T
ENST00000261405.9:c.2546+254C>T ENSP00000261405.5:n.2546+254C>T
ENST00000538635.5:n.421-42200C>T
NM_000552.3:c.2546+254C>T NP_000543.2:n.2546+254C>T
NM_000552.4:c.2546+254C>T NP_000543.2:n.2546+254C>T
NM_000552.5:c.2546+254C>T MANE Select NP_000543.3:n.2546+254C>T