Canonical Allele Identifier: CA201316
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 100206
ClinVar RCV Id: RCV000086592 RCV000175146 RCV000267455 RCV002243713 RCV002243714 RCV002243715
dbSNP Id: rs2228317
ExAC: 12:6155950 C / T
gnomAD v2: 12-6155950-C-T
gnomAD v3: 12-6046784-C-T
gnomAD v4: 12-6046784-C-T
MyVariant Identifiers: chr12:g.6155950C>T (hg19) chr12:g.6046784C>T (hg38)
ERepo: CA201316/MONDO:0019565/090
PubMed: PMID:10959712 PMID:22197721 PMID:23216583 PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6046784C>T , CM000674.2:g.6046784C>T GRCh38
NC_000012.11:g.6155950C>T , CM000674.1:g.6155950C>T GRCh37
NC_000012.10:g.6026211C>T NCBI36
NG_009072.1:g.82887G>A
NG_009072.2:g.82887G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.2220G>A MANE Select ENSP00000261405.5:p.Met740Ile
ENST00000261405.9:c.2220G>A ENSP00000261405.5:p.Met740Ile
ENST00000538635.5:n.421-52850G>A
NM_000552.3:c.2220G>A NP_000543.2:p.Met740Ile
NM_000552.4:c.2220G>A NP_000543.2:p.Met740Ile
NM_000552.5:c.2220G>A MANE Select NP_000543.3:p.Met740Ile
Search 100 bp 5'
Search 100 bp 3'