Canonical Allele Identifier: CA377269482

Gene: VCL

Linked Data

• dbSNP Id: rs1372933618
• gnomAD v2: 10-75842228-A-G
• gnomAD v3: 10-74082470-A-G
• gnomAD v4: 10-74082470-A-G
• MyVariant Identifiers: chr10:g.75842228A>G (hg19) ; chr10:g.74082470A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74082470A>G , CM000672.2:g.74082470A>G	GRCh38
NC_000010.10:g.75842228A>G , CM000672.1:g.75842228A>G	GRCh37
NC_000010.9:g.75512234A>G	NCBI36
NG_008868.1:g.89357A>G , LRG_383:g.89357A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000211998.10:c.800A>G MANE Select	ENSP00000211998.5:p.Lys267Arg
ENST00000211998.8:c.800A>G	ENSP00000211998.4:p.Lys267Arg
ENST00000372755.7:c.800A>G	ENSP00000361841.3:p.Lys267Arg
ENST00000478896.2:n.332-18584A>G
ENST00000623461.3:n.3603A>G
ENST00000624354.3:c.*555A>G	ENSP00000485551.1:n.*555A>G
NM_003373.3:c.800A>G	NP_003364.1:p.Lys267Arg
NM_014000.2:c.800A>G , LRG_383t1:c.800A>G	NP_054706.1:p.Lys267Arg
XM_005270142.1:c.803A>G	XP_005270199.1:p.Lys268Arg
XM_005270143.1:c.803A>G	XP_005270200.1:p.Lys268Arg
XR_001747501.1:n.90-4743T>C
NM_003373.4:c.800A>G	NP_003364.1:p.Lys267Arg
NM_014000.3:c.800A>G MANE Select	NP_054706.1:p.Lys267Arg