Canonical Allele Identifier: CA136745

Gene: VCL

Linked Data

• ClinVar Variation Id: 45596
• ClinVar RCV Id: RCV000038813 ; RCV000464811 ; RCV000620621 ; RCV000491755 ; RCV001555951 ; RCV002490530
• dbSNP Id: rs373010557
• ExAC: 10:75866997 A / G
• gnomAD v2: 10-75866997-A-G
• gnomAD v3: 10-74107239-A-G
• gnomAD v4: 10-74107239-A-G
• MyVariant Identifiers: chr10:g.75866997A>G (hg19) ; chr10:g.74107239A>G (hg38)
• PubMed: PMID:24062880 ; PMID:24503780

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74107239A>G , CM000672.2:g.74107239A>G	GRCh38
NC_000010.10:g.75866997A>G , CM000672.1:g.75866997A>G	GRCh37
NC_000010.9:g.75537003A>G	NCBI36
NG_008868.1:g.114126A>G , LRG_383:g.114126A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000211998.10:c.2444A>G MANE Select	ENSP00000211998.5:p.Lys815Arg
ENST00000211998.8:c.2444A>G	ENSP00000211998.4:p.Lys815Arg
ENST00000372755.7:c.2444A>G	ENSP00000361841.3:p.Lys815Arg
ENST00000436396.1:c.1460A>G	ENSP00000415489.1:p.Lys487Arg
ENST00000472585.1:n.436A>G
ENST00000623461.3:n.5247A>G
ENST00000624354.3:c.*2199A>G	ENSP00000485551.1:n.*2199A>G
NM_003373.3:c.2444A>G	NP_003364.1:p.Lys815Arg
NM_014000.2:c.2444A>G , LRG_383t1:c.2444A>G	NP_054706.1:p.Lys815Arg
XM_005270142.1:c.2447A>G	XP_005270199.1:p.Lys816Arg
XM_005270143.1:c.2447A>G	XP_005270200.1:p.Lys816Arg
NM_003373.4:c.2444A>G	NP_003364.1:p.Lys815Arg
NM_014000.3:c.2444A>G MANE Select	NP_054706.1:p.Lys815Arg