Canonical Allele Identifier: CA5563234

Gene: VCL

Linked Data

• ClinVar Variation Id: 240879
• ClinVar RCV Id: RCV000234166
• dbSNP Id: rs140381835
• ExAC: 10:75867025 C / G
• gnomAD v2: 10-75867025-C-G
• gnomAD v3: 10-74107267-C-G
• gnomAD v4: 10-74107267-C-G
• MyVariant Identifiers: chr10:g.75867025C>G (hg19) ; chr10:g.74107267C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74107267C>G , CM000672.2:g.74107267C>G	GRCh38
NC_000010.10:g.75867025C>G , CM000672.1:g.75867025C>G	GRCh37
NC_000010.9:g.75537031C>G	NCBI36
NG_008868.1:g.114154C>G , LRG_383:g.114154C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000211998.10:c.2472C>G MANE Select	ENSP00000211998.5:p.Ile824Met
ENST00000211998.8:c.2472C>G	ENSP00000211998.4:p.Ile824Met
ENST00000372755.7:c.2472C>G	ENSP00000361841.3:p.Ile824Met
ENST00000436396.1:c.1488C>G	ENSP00000415489.1:p.Ile496Met
ENST00000472585.1:n.464C>G
ENST00000623461.3:n.5275C>G
ENST00000624354.3:c.*2227C>G	ENSP00000485551.1:n.*2227C>G
NM_003373.3:c.2472C>G	NP_003364.1:p.Ile824Met
NM_014000.2:c.2472C>G , LRG_383t1:c.2472C>G	NP_054706.1:p.Ile824Met
XM_005270142.1:c.2475C>G	XP_005270199.1:p.Ile825Met
XM_005270143.1:c.2475C>G	XP_005270200.1:p.Ile825Met
NM_003373.4:c.2472C>G	NP_003364.1:p.Ile824Met
NM_014000.3:c.2472C>G MANE Select	NP_054706.1:p.Ile824Met