Canonical Allele Identifier: CA179619

Gene: VCL

Linked Data

• ClinVar Variation Id: 166555
• ClinVar RCV Id: RCV000152652 ; RCV001408582
• dbSNP Id: rs566296495
• ExAC: 10:75871762 C / T
• gnomAD v2: 10-75871762-C-T
• gnomAD v3: 10-74112004-C-T
• gnomAD v4: 10-74112004-C-T
• COSMIC: COSM1349107
• MyVariant Identifiers: chr10:g.75871762C>T (hg19) ; chr10:g.74112004C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74112004C>T , CM000672.2:g.74112004C>T	GRCh38
NC_000010.10:g.75871762C>T , CM000672.1:g.75871762C>T	GRCh37
NC_000010.9:g.75541768C>T	NCBI36
NG_008868.1:g.118891C>T , LRG_383:g.118891C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000211998.10:c.2841C>T MANE Select	ENSP00000211998.5:p.Asp947=
ENST00000211998.8:c.2841C>T	ENSP00000211998.4:p.Asp947=
ENST00000372755.7:c.2746-2180C>T	ENSP00000361841.3:n.2746-2180C>T
ENST00000436396.1:c.1857C>T	ENSP00000415489.1:p.Asp619=
ENST00000623461.3:n.5549-2180C>T
ENST00000624354.3:c.*2596C>T	ENSP00000485551.1:n.*2596C>T
NM_003373.3:c.2746-2180C>T	NP_003364.1:n.2746-2180C>T
NM_014000.2:c.2841C>T , LRG_383t1:c.2841C>T	NP_054706.1:p.Asp947=
XM_005270142.1:c.2844C>T	XP_005270199.1:p.Asp948=
XM_005270143.1:c.2749-2180C>T	XP_005270200.1:n.2749-2180C>T
NM_003373.4:c.2746-2180C>T	NP_003364.1:n.2746-2180C>T
NM_014000.3:c.2841C>T MANE Select	NP_054706.1:p.Asp947=