Canonical Allele Identifier: CA383499283
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 1065220
ClinVar RCV Id: RCV001787138
dbSNP Id: rs753701755
MyVariant Identifiers: chr12:g.6127792C>A (hg19) chr12:g.6018626C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6018626C>A , CM000674.2:g.6018626C>A GRCh38
NC_000012.11:g.6127792C>A , CM000674.1:g.6127792C>A GRCh37
NC_000012.10:g.5998053C>A NCBI36
NG_009072.1:g.111045G>T
NG_009072.2:g.111045G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261405.10:c.4792G>T MANE Select ENSP00000261405.5:p.Glu1598Ter
ENST00000261405.9:c.4792G>T ENSP00000261405.5:p.Glu1598Ter
ENST00000538635.5:n.421-24692G>T
NM_000552.3:c.4792G>T NP_000543.2:p.Glu1598Ter
NM_000552.4:c.4792G>T NP_000543.2:p.Glu1598Ter
NM_000552.5:c.4792G>T MANE Select NP_000543.3:p.Glu1598Ter
Search 100 bp 5'
Search 100 bp 3'