Canonical Allele Identifier: CA6402625
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 1336765
ClinVar RCV Id: RCV001819251
dbSNP Id: rs1800381
ExAC: 12:6128573 C / T
gnomAD v2: 12-6128573-C-T
gnomAD v3: 12-6019407-C-T
gnomAD v4: 12-6019407-C-T
COSMIC: COSM1363501
MyVariant Identifiers: chr12:g.6128573C>T (hg19) chr12:g.6019407C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019407C>T , CM000674.2:g.6019407C>T GRCh38
NC_000012.11:g.6128573C>T , CM000674.1:g.6128573C>T GRCh37
NC_000012.10:g.5998834C>T NCBI36
NG_009072.1:g.110264G>A
NG_009072.2:g.110264G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.4011G>A MANE Select ENSP00000261405.5:p.Pro1337=
ENST00000261405.9:c.4011G>A ENSP00000261405.5:p.Pro1337=
ENST00000538635.5:n.421-25473G>A
NM_000552.3:c.4011G>A NP_000543.2:p.Pro1337=
NM_000552.4:c.4011G>A NP_000543.2:p.Pro1337=
NM_000552.5:c.4011G>A MANE Select NP_000543.3:p.Pro1337=
Search 100 bp 5'
Search 100 bp 3'