Canonical Allele Identifier: CA6403079
Gene: VWF HGNC NCBI

Linked Data

ClinVar Variation Id: 619743
ClinVar RCV Id: RCV000759390
dbSNP Id: rs62643632
ExAC: 12:6153463 C / CG
gnomAD v4: 12-6044297-C-CG
COSMIC: COSM1990469
MyVariant Identifiers: chr12:g.6153464_6153465insG (hg19) chr12:g.6153463_6153464insG (hg19) chr12:g.6044297_6044298insG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6044303dup , CM000674.2:g.6044303dup GRCh38
NC_000012.11:g.6153469dup , CM000674.1:g.6153469dup GRCh37
NC_000012.10:g.6023730dup NCBI36
NG_009072.1:g.85373dup
NG_009072.2:g.85373dup

Transcript Alleles

HGVS Amino-acid change
ENST00000261405.10:c.2435dup MANE Select ENSP00000261405.5:p.Met814HisfsTer5
ENST00000261405.9:c.2435dup ENSP00000261405.5:p.Met814HisfsTer5
ENST00000538635.5:n.421-50364dup
NM_000552.3:c.2435dup NP_000543.2:p.Met814HisfsTer5
NM_000552.4:c.2435dup NP_000543.2:p.Met814HisfsTer5
NM_000552.5:c.2435dup MANE Select NP_000543.3:p.Met814HisfsTer5
Search 100 bp 5'
Search 100 bp 3'