Canonical Allele Identifier: CA690504602
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs1462205691
gnomAD v3: 12-6021872-C-T
gnomAD v4: 12-6021872-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6021872C>T , CM000674.2:g.6021872C>T GRCh38
NC_000012.11:g.6131038C>T , CM000674.1:g.6131038C>T GRCh37
NC_000012.10:g.6001299C>T NCBI36
NG_009072.1:g.107799G>A
NG_009072.2:g.107799G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.3674+28G>A MANE Select ENSP00000261405.5:n.3674+28G>A
ENST00000261405.9:c.3674+28G>A ENSP00000261405.5:n.3674+28G>A
ENST00000538635.5:n.421-27938G>A
ENST00000539641.1:n.27+28G>A
NM_000552.3:c.3674+28G>A NP_000543.2:n.3674+28G>A
NM_000552.4:c.3674+28G>A NP_000543.2:n.3674+28G>A
NM_000552.5:c.3674+28G>A MANE Select NP_000543.3:n.3674+28G>A