Canonical Allele Identifier: CA470175545

Gene: VCL

Linked Data

• ClinVar Variation Id: 1782820
• ClinVar RCV Id: RCV002410853
• dbSNP Id: rs1307934128
• gnomAD v2: 10-75860762-G-A
• gnomAD v4: 10-74101004-G-A
• MyVariant Identifiers: chr10:g.75860762G>A (hg19) ; chr10:g.74101004G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74101004G>A , CM000672.2:g.74101004G>A	GRCh38
NC_000010.10:g.75860762G>A , CM000672.1:g.75860762G>A	GRCh37
NC_000010.9:g.75530768G>A	NCBI36
NG_008868.1:g.107891G>A , LRG_383:g.107891G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000211998.10:c.1929G>A MANE Select	ENSP00000211998.5:p.Thr643=
ENST00000211998.8:c.1929G>A	ENSP00000211998.4:p.Thr643=
ENST00000372755.7:c.1929G>A	ENSP00000361841.3:p.Thr643=
ENST00000436396.1:c.945G>A	ENSP00000415489.1:p.Thr315=
ENST00000478896.2:n.332-50G>A
ENST00000623461.3:n.4732G>A
ENST00000624354.3:c.*1684G>A	ENSP00000485551.1:n.*1684G>A
NM_003373.3:c.1929G>A	NP_003364.1:p.Thr643=
NM_014000.2:c.1929G>A , LRG_383t1:c.1929G>A	NP_054706.1:p.Thr643=
XM_005270142.1:c.1932G>A	XP_005270199.1:p.Thr644=
XM_005270143.1:c.1932G>A	XP_005270200.1:p.Thr644=
NM_003373.4:c.1929G>A	NP_003364.1:p.Thr643=
NM_014000.3:c.1929G>A MANE Select	NP_054706.1:p.Thr643=