Canonical Allele Identifier: CA2617231429
Gene: VWF HGNC NCBI

Linked Data

gnomAD v4: 12-6036300-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6036300G>A , CM000674.2:g.6036300G>A GRCh38
NC_000012.11:g.6145466G>A , CM000674.1:g.6145466G>A GRCh37
NC_000012.10:g.6015727G>A NCBI36
NG_009072.1:g.93371C>T
NG_009072.2:g.93371C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.2546+88C>T MANE Select ENSP00000261405.5:n.2546+88C>T
ENST00000261405.9:c.2546+88C>T ENSP00000261405.5:n.2546+88C>T
ENST00000538635.5:n.421-42366C>T
NM_000552.3:c.2546+88C>T NP_000543.2:n.2546+88C>T
NM_000552.4:c.2546+88C>T NP_000543.2:n.2546+88C>T
NM_000552.5:c.2546+88C>T MANE Select NP_000543.3:n.2546+88C>T