Canonical Allele Identifier: CA228516
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 100317
ClinVar RCV Id: RCV000086722 RCV002264656
dbSNP Id: rs61749403
MyVariant Identifiers: chr12:g.6128562C>G (hg19) chr12:g.6019396C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019396C>G , CM000674.2:g.6019396C>G GRCh38
NC_000012.11:g.6128562C>G , CM000674.1:g.6128562C>G GRCh37
NC_000012.10:g.5998823C>G NCBI36
NG_009072.1:g.110275G>C
NG_009072.2:g.110275G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.4022G>C MANE Select ENSP00000261405.5:p.Arg1341Pro
ENST00000261405.9:c.4022G>C ENSP00000261405.5:p.Arg1341Pro
ENST00000538635.5:n.421-25462G>C
NM_000552.3:c.4022G>C NP_000543.2:p.Arg1341Pro
NM_000552.4:c.4022G>C NP_000543.2:p.Arg1341Pro
NM_000552.5:c.4022G>C MANE Select NP_000543.3:p.Arg1341Pro
Search 100 bp 5'
Search 100 bp 3'