Canonical Allele Identifier: CA232298874
Gene: VWF HGNC NCBI

Linked Data

dbSNP Id: rs377348580
gnomAD v2: 12-6140840-G-A
gnomAD v3: 12-6031674-G-A
gnomAD v4: 12-6031674-G-A
MyVariant Identifiers: chr12:g.6140840G>A (hg19) chr12:g.6031674G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6031674G>A , CM000674.2:g.6031674G>A GRCh38
NC_000012.11:g.6140840G>A , CM000674.1:g.6140840G>A GRCh37
NC_000012.10:g.6011101G>A NCBI36
NG_009072.1:g.97997C>T
NG_009072.2:g.97997C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2686-96C>T MANE Select ENSP00000261405.5:n.2686-96C>T
ENST00000261405.9:c.2686-96C>T ENSP00000261405.5:n.2686-96C>T
ENST00000538635.5:n.421-37740C>T
NM_000552.3:c.2686-96C>T NP_000543.2:n.2686-96C>T
NM_000552.4:c.2686-96C>T NP_000543.2:n.2686-96C>T
NM_000552.5:c.2686-96C>T MANE Select NP_000543.3:n.2686-96C>T
Search 100 bp 5'
Search 100 bp 3'