Canonical Allele Identifier: CA2617230473
Gene: VWF HGNC NCBI

Linked Data

gnomAD v4: 12-6023915-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023915G>T , CM000674.2:g.6023915G>T GRCh38
NC_000012.11:g.6133081G>T , CM000674.1:g.6133081G>T GRCh37
NC_000012.10:g.6003342G>T NCBI36
NG_009072.1:g.105756C>A
NG_009072.2:g.105756C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3223-128C>A MANE Select ENSP00000261405.5:n.3223-128C>A
ENST00000261405.9:c.3223-128C>A ENSP00000261405.5:n.3223-128C>A
ENST00000538635.5:n.421-29981C>A
NM_000552.3:c.3223-128C>A NP_000543.2:n.3223-128C>A
NM_000552.4:c.3223-128C>A NP_000543.2:n.3223-128C>A
NM_000552.5:c.3223-128C>A MANE Select NP_000543.3:n.3223-128C>A