Canonical Allele Identifier: CA209704317

Gene: VCL

Linked Data

• ClinVar Variation Id: 468812
• ClinVar RCV Id: RCV003227787 ; RCV003302855
• dbSNP Id: rs960761223
• gnomAD v2: 10-75857032-C-G
• gnomAD v3: 10-74097274-C-G
• gnomAD v4: 10-74097274-C-G
• MyVariant Identifiers: chr10:g.75857032C>G (hg19) ; chr10:g.74097274C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74097274C>G , CM000672.2:g.74097274C>G	GRCh38
NC_000010.10:g.75857032C>G , CM000672.1:g.75857032C>G	GRCh37
NC_000010.9:g.75527038C>G	NCBI36
NG_008868.1:g.104161C>G , LRG_383:g.104161C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000211998.10:c.1814C>G MANE Select	ENSP00000211998.5:p.Pro605Arg
ENST00000211998.8:c.1814C>G	ENSP00000211998.4:p.Pro605Arg
ENST00000372755.7:c.1814C>G	ENSP00000361841.3:p.Pro605Arg
ENST00000436396.1:c.830C>G	ENSP00000415489.1:p.Pro277Arg
ENST00000478896.2:n.332-3780C>G
ENST00000623461.3:n.4617C>G
ENST00000624354.3:c.*1569C>G	ENSP00000485551.1:n.*1569C>G
NM_003373.3:c.1814C>G	NP_003364.1:p.Pro605Arg
NM_014000.2:c.1814C>G , LRG_383t1:c.1814C>G	NP_054706.1:p.Pro605Arg
XM_005270142.1:c.1817C>G	XP_005270199.1:p.Pro606Arg
XM_005270143.1:c.1817C>G	XP_005270200.1:p.Pro606Arg
NM_003373.4:c.1814C>G	NP_003364.1:p.Pro605Arg
NM_014000.3:c.1814C>G MANE Select	NP_054706.1:p.Pro605Arg