Canonical Allele Identifier: CA16606053

Gene: VCL

Linked Data

• ClinVar Variation Id: 378848
• ClinVar RCV Id: RCV002061568 ; RCV002502487
• dbSNP Id: rs918332199
• gnomAD v2: 10-75802922-G-A
• gnomAD v3: 10-74043164-G-A
• gnomAD v4: 10-74043164-G-A
• MyVariant Identifiers: chr10:g.75802922G>A (hg19) ; chr10:g.74043164G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74043164G>A , CM000672.2:g.74043164G>A	GRCh38
NC_000010.10:g.75802922G>A , CM000672.1:g.75802922G>A	GRCh37
NC_000010.9:g.75472928G>A	NCBI36
NG_008868.1:g.50051G>A , LRG_383:g.50051G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000211998.10:c.239+11G>A MANE Select	ENSP00000211998.5:n.239+11G>A
ENST00000211998.8:c.239+11G>A	ENSP00000211998.4:n.239+11G>A
ENST00000372755.7:c.239+11G>A	ENSP00000361841.3:n.239+11G>A
ENST00000461383.1:n.63+11G>A
ENST00000478896.2:n.331+11G>A
ENST00000623461.3:n.197+11G>A
ENST00000624354.3:c.169-27506G>A	ENSP00000485551.1:n.169-27506G>A
NM_003373.3:c.239+11G>A	NP_003364.1:n.239+11G>A
NM_014000.2:c.239+11G>A , LRG_383t1:c.239+11G>A	NP_054706.1:n.239+11G>A
XM_005270142.1:c.239+11G>A	XP_005270199.1:n.239+11G>A
XM_005270143.1:c.239+11G>A	XP_005270200.1:n.239+11G>A
NM_003373.4:c.239+11G>A	NP_003364.1:n.239+11G>A
NM_014000.3:c.239+11G>A MANE Select	NP_054706.1:n.239+11G>A