Canonical Allele Identifier: CA383506213
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 811125
ClinVar RCV Id: RCV001000781
dbSNP Id: rs61749385
MyVariant Identifiers: chr12:g.6128667C>G (hg19) chr12:g.6019501C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6019501C>G , CM000674.2:g.6019501C>G GRCh38
NC_000012.11:g.6128667C>G , CM000674.1:g.6128667C>G GRCh37
NC_000012.10:g.5998928C>G NCBI36
NG_009072.1:g.110170G>C
NG_009072.2:g.110170G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.3917G>C MANE Select ENSP00000261405.5:p.Arg1306Pro
ENST00000261405.9:c.3917G>C ENSP00000261405.5:p.Arg1306Pro
ENST00000538635.5:n.421-25567G>C
NM_000552.3:c.3917G>C NP_000543.2:p.Arg1306Pro
NM_000552.4:c.3917G>C NP_000543.2:p.Arg1306Pro
NM_000552.5:c.3917G>C MANE Select NP_000543.3:p.Arg1306Pro
Search 100 bp 5'
Search 100 bp 3'