Canonical Allele Identifier: CA383498217
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 619931
ClinVar RCV Id: RCV000760114
dbSNP Id: rs1241627827
gnomAD v3: 12-6057948-G-T
gnomAD v4: 12-6057948-G-T
MyVariant Identifiers: chr12:g.6167114G>T (hg19) chr12:g.6057948G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6057948G>T , CM000674.2:g.6057948G>T GRCh38
NC_000012.11:g.6167114G>T , CM000674.1:g.6167114G>T GRCh37
NC_000012.10:g.6037375G>T NCBI36
NG_009072.1:g.71723C>A
NG_009072.2:g.71723C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.1630C>A MANE Select ENSP00000261405.5:p.Pro544Thr
ENST00000261405.9:c.1630C>A ENSP00000261405.5:p.Pro544Thr
ENST00000538635.5:n.420+52567C>A
NM_000552.3:c.1630C>A NP_000543.2:p.Pro544Thr
NM_000552.4:c.1630C>A NP_000543.2:p.Pro544Thr
NM_000552.5:c.1630C>A MANE Select NP_000543.3:p.Pro544Thr
Search 100 bp 5'
Search 100 bp 3'