Canonical Allele Identifier: CA5562923

Gene: VCL

Linked Data

• ClinVar Variation Id: 575448
• ClinVar RCV Id: RCV000697668 ; RCV002397430 ; RCV002485703
• dbSNP Id: rs777709634
• ExAC: 10:75848977 C / T
• gnomAD v2: 10-75848977-C-T
• gnomAD v3: 10-74089219-C-T
• gnomAD v4: 10-74089219-C-T
• MyVariant Identifiers: chr10:g.75848977C>T (hg19) ; chr10:g.74089219C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74089219C>T , CM000672.2:g.74089219C>T	GRCh38
NC_000010.10:g.75848977C>T , CM000672.1:g.75848977C>T	GRCh37
NC_000010.9:g.75518983C>T	NCBI36
NG_008868.1:g.96106C>T , LRG_383:g.96106C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000211998.10:c.1046C>T MANE Select	ENSP00000211998.5:p.Ala349Val
ENST00000211998.8:c.1046C>T	ENSP00000211998.4:p.Ala349Val
ENST00000372755.7:c.1046C>T	ENSP00000361841.3:p.Ala349Val
ENST00000436396.1:c.62C>T	ENSP00000415489.1:p.Ala21Val
ENST00000478896.2:n.332-11835C>T
ENST00000623461.3:n.3849C>T
ENST00000624354.3:c.*801C>T	ENSP00000485551.1:n.*801C>T
NM_003373.3:c.1046C>T	NP_003364.1:p.Ala349Val
NM_014000.2:c.1046C>T , LRG_383t1:c.1046C>T	NP_054706.1:p.Ala349Val
XM_005270142.1:c.1049C>T	XP_005270199.1:p.Ala350Val
XM_005270143.1:c.1049C>T	XP_005270200.1:p.Ala350Val
XR_001747501.1:n.89+713G>A
NM_003373.4:c.1046C>T	NP_003364.1:p.Ala349Val
NM_014000.3:c.1046C>T MANE Select	NP_054706.1:p.Ala349Val