Canonical Allele Identifier: CA377269667
Gene: VCL HGNC NCBI

Linked Data

ClinVar Variation Id: 2091099
ClinVar RCV Id: RCV003007874

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.74082505C>T , CM000672.2:g.74082505C>T GRCh38
NC_000010.10:g.75842263C>T , CM000672.1:g.75842263C>T GRCh37
NC_000010.9:g.75512269C>T NCBI36
NG_008868.1:g.89392C>T , LRG_383:g.89392C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000211998.10:c.835C>T MANE Select ENSP00000211998.5:p.Gln279Ter
ENST00000211998.8:c.835C>T ENSP00000211998.4:p.Gln279Ter
ENST00000372755.7:c.835C>T ENSP00000361841.3:p.Gln279Ter
ENST00000478896.2:n.332-18549C>T
ENST00000623461.3:n.3638C>T
ENST00000624354.3:c.*590C>T ENSP00000485551.1:n.*590C>T
NM_003373.3:c.835C>T NP_003364.1:p.Gln279Ter
NM_014000.2:c.835C>T , LRG_383t1:c.835C>T NP_054706.1:p.Gln279Ter
XM_005270142.1:c.838C>T XP_005270199.1:p.Gln280Ter
XM_005270143.1:c.838C>T XP_005270200.1:p.Gln280Ter
XR_001747501.1:n.90-4778G>A
NM_003373.4:c.835C>T NP_003364.1:p.Gln279Ter
NM_014000.3:c.835C>T MANE Select NP_054706.1:p.Gln279Ter