Canonical Allele Identifier: CA377266811
Gene: VCL HGNC NCBI

Linked Data

ClinVar Variation Id: 915719
ClinVar RCV Id: RCV001170936
dbSNP Id: rs1841656671

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.74071070G>C , CM000672.2:g.74071070G>C GRCh38
NC_000010.10:g.75830828G>C , CM000672.1:g.75830828G>C GRCh37
NC_000010.9:g.75500834G>C NCBI36
NG_008868.1:g.77957G>C , LRG_383:g.77957G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000211998.10:c.486G>C MANE Select ENSP00000211998.5:p.Lys162Asn
ENST00000211998.8:c.486G>C ENSP00000211998.4:p.Lys162Asn
ENST00000372755.7:c.486G>C ENSP00000361841.3:p.Lys162Asn
ENST00000478896.2:n.331+27917G>C
ENST00000623461.3:n.444G>C
ENST00000624354.3:c.*241G>C ENSP00000485551.1:n.*241G>C
NM_003373.3:c.486G>C NP_003364.1:p.Lys162Asn
NM_014000.2:c.486G>C , LRG_383t1:c.486G>C NP_054706.1:p.Lys162Asn
XM_005270142.1:c.486G>C XP_005270199.1:p.Lys162Asn
XM_005270143.1:c.486G>C XP_005270200.1:p.Lys162Asn
NM_003373.4:c.486G>C NP_003364.1:p.Lys162Asn
NM_014000.3:c.486G>C MANE Select NP_054706.1:p.Lys162Asn