Canonical Allele Identifier: CA335600
Gene: VCL HGNC NCBI

Linked Data

ClinVar Variation Id: 202148
ClinVar RCV Id: RCV000183980
dbSNP Id: rs794729188

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.74107229G>A , CM000672.2:g.74107229G>A GRCh38
NC_000010.10:g.75866987G>A , CM000672.1:g.75866987G>A GRCh37
NC_000010.9:g.75536993G>A NCBI36
NG_008868.1:g.114116G>A , LRG_383:g.114116G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000211998.10:c.2435-1G>A MANE Select ENSP00000211998.5:n.2435-1G>A
ENST00000211998.8:c.2435-1G>A ENSP00000211998.4:n.2435-1G>A
ENST00000372755.7:c.2435-1G>A ENSP00000361841.3:n.2435-1G>A
ENST00000436396.1:c.1451-1G>A ENSP00000415489.1:n.1451-1G>A
ENST00000472585.1:n.427-1G>A
ENST00000623461.3:n.5238-1G>A
ENST00000624354.3:c.*2190-1G>A ENSP00000485551.1:n.*2190-1G>A
NM_003373.3:c.2435-1G>A NP_003364.1:n.2435-1G>A
NM_014000.2:c.2435-1G>A , LRG_383t1:c.2435-1G>A NP_054706.1:n.2435-1G>A
XM_005270142.1:c.2438-1G>A XP_005270199.1:n.2438-1G>A
XM_005270143.1:c.2438-1G>A XP_005270200.1:n.2438-1G>A
NM_003373.4:c.2435-1G>A NP_003364.1:n.2435-1G>A
NM_014000.3:c.2435-1G>A MANE Select NP_054706.1:n.2435-1G>A