Canonical Allele Identifier: CA228518
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 100318
ClinVar RCV Id: RCV000086723
dbSNP Id: rs61749403
MyVariant Identifiers: chr12:g.6128562C>A (hg19) chr12:g.6019396C>A (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.4022G>T MANE Select ENSP00000261405.5:p.Arg1341Leu
ENST00000261405.9:c.4022G>T ENSP00000261405.5:p.Arg1341Leu
ENST00000538635.5:n.421-25462G>T
NM_000552.3:c.4022G>T NP_000543.2:p.Arg1341Leu
NM_000552.4:c.4022G>T NP_000543.2:p.Arg1341Leu
NM_000552.5:c.4022G>T MANE Select NP_000543.3:p.Arg1341Leu
Search 100 bp 5'
Search 100 bp 3'