Canonical Allele Identifier: CA228694
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 100413
ClinVar RCV Id: RCV000086823
dbSNP Id: rs61750597
ExAC: 12:6127580 C / A
gnomAD v2: 12-6127580-C-A
gnomAD v3: 12-6018414-C-A
gnomAD v4: 12-6018414-C-A
MyVariant Identifiers: chr12:g.6127580C>A (hg19) chr12:g.6018414C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018414C>A , CM000674.2:g.6018414C>A GRCh38
NC_000012.11:g.6127580C>A , CM000674.1:g.6127580C>A GRCh37
NC_000012.10:g.5997841C>A NCBI36
NG_009072.1:g.111257G>T
NG_009072.2:g.111257G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.5004G>T MANE Select ENSP00000261405.5:p.Arg1668Ser
ENST00000261405.9:c.5004G>T ENSP00000261405.5:p.Arg1668Ser
ENST00000538635.5:n.421-24480G>T
NM_000552.3:c.5004G>T NP_000543.2:p.Arg1668Ser
NM_000552.4:c.5004G>T NP_000543.2:p.Arg1668Ser
NM_000552.5:c.5004G>T MANE Select NP_000543.3:p.Arg1668Ser
Search 100 bp 5'
Search 100 bp 3'