Canonical Allele Identifier: CA232297996
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs905811634
gnomAD v2: 12-6131431-C-A
gnomAD v3: 12-6022265-C-A
gnomAD v4: 12-6022265-C-A
MyVariant Identifiers: chr12:g.6131431C>A (hg19) chr12:g.6022265C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6022265C>A , CM000674.2:g.6022265C>A GRCh38
NC_000012.11:g.6131431C>A , CM000674.1:g.6131431C>A GRCh37
NC_000012.10:g.6001692C>A NCBI36
NG_009072.1:g.107406G>T
NG_009072.2:g.107406G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.3539-230G>T MANE Select ENSP00000261405.5:n.3539-230G>T
ENST00000261405.9:c.3539-230G>T ENSP00000261405.5:n.3539-230G>T
ENST00000538635.5:n.421-28331G>T
NM_000552.3:c.3539-230G>T NP_000543.2:n.3539-230G>T
NM_000552.4:c.3539-230G>T NP_000543.2:n.3539-230G>T
NM_000552.5:c.3539-230G>T MANE Select NP_000543.3:n.3539-230G>T
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