Canonical Allele Identifier: CA136749

Gene: VCL

Linked Data

• ClinVar Variation Id: 45598
• ClinVar RCV Id: RCV002433507
• dbSNP Id: rs140308982
• ExAC: 10:75871717 T / C
• gnomAD v2: 10-75871717-T-C
• gnomAD v3: 10-74111959-T-C
• gnomAD v4: 10-74111959-T-C
• MyVariant Identifiers: chr10:g.75871717T>C (hg19) ; chr10:g.74111959T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74111959T>C , CM000672.2:g.74111959T>C	GRCh38
NC_000010.10:g.75871717T>C , CM000672.1:g.75871717T>C	GRCh37
NC_000010.9:g.75541723T>C	NCBI36
NG_008868.1:g.118846T>C , LRG_383:g.118846T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000211998.10:c.2796T>C MANE Select	ENSP00000211998.5:p.Asp932=
ENST00000211998.8:c.2796T>C	ENSP00000211998.4:p.Asp932=
ENST00000372755.7:c.2746-2225T>C	ENSP00000361841.3:n.2746-2225T>C
ENST00000436396.1:c.1812T>C	ENSP00000415489.1:p.Asp604=
ENST00000623461.3:n.5549-2225T>C
ENST00000624354.3:c.*2551T>C	ENSP00000485551.1:n.*2551T>C
NM_003373.3:c.2746-2225T>C	NP_003364.1:n.2746-2225T>C
NM_014000.2:c.2796T>C , LRG_383t1:c.2796T>C	NP_054706.1:p.Asp932=
XM_005270142.1:c.2799T>C	XP_005270199.1:p.Asp933=
XM_005270143.1:c.2749-2225T>C	XP_005270200.1:n.2749-2225T>C
NM_003373.4:c.2746-2225T>C	NP_003364.1:n.2746-2225T>C
NM_014000.3:c.2796T>C MANE Select	NP_054706.1:p.Asp932=