Canonical Allele Identifier: CA2575053928
Gene: VWF HGNC NCBI

Linked Data

gnomAD v4: 12-6023552-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6023552C>G , CM000674.2:g.6023552C>G GRCh38
NC_000012.11:g.6132718C>G , CM000674.1:g.6132718C>G GRCh37
NC_000012.10:g.6002979C>G NCBI36
NG_009072.1:g.106119G>C
NG_009072.2:g.106119G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.3379+79G>C MANE Select ENSP00000261405.5:n.3379+79G>C
ENST00000261405.9:c.3379+79G>C ENSP00000261405.5:n.3379+79G>C
ENST00000538635.5:n.421-29618G>C
NM_000552.3:c.3379+79G>C NP_000543.2:n.3379+79G>C
NM_000552.4:c.3379+79G>C NP_000543.2:n.3379+79G>C
NM_000552.5:c.3379+79G>C MANE Select NP_000543.3:n.3379+79G>C