Canonical Allele Identifier: CA16605690

Gene: VCL

Linked Data

• ClinVar Variation Id: 392815
• ClinVar RCV Id: RCV000427720 ; RCV003766469
• dbSNP Id: rs201207594
• gnomAD v4: 10-74107220-T-C
• MyVariant Identifiers: chr10:g.75866978T>C (hg19) ; chr10:g.74107220T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74107220T>C , CM000672.2:g.74107220T>C	GRCh38
NC_000010.10:g.75866978T>C , CM000672.1:g.75866978T>C	GRCh37
NC_000010.9:g.75536984T>C	NCBI36
NG_008868.1:g.114107T>C , LRG_383:g.114107T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000211998.10:c.2435-10T>C MANE Select	ENSP00000211998.5:n.2435-10T>C
ENST00000211998.8:c.2435-10T>C	ENSP00000211998.4:n.2435-10T>C
ENST00000372755.7:c.2435-10T>C	ENSP00000361841.3:n.2435-10T>C
ENST00000436396.1:c.1451-10T>C	ENSP00000415489.1:n.1451-10T>C
ENST00000472585.1:n.427-10T>C
ENST00000623461.3:n.5238-10T>C
ENST00000624354.3:c.*2190-10T>C	ENSP00000485551.1:n.*2190-10T>C
NM_003373.3:c.2435-10T>C	NP_003364.1:n.2435-10T>C
NM_014000.2:c.2435-10T>C , LRG_383t1:c.2435-10T>C	NP_054706.1:n.2435-10T>C
XM_005270142.1:c.2438-10T>C	XP_005270199.1:n.2438-10T>C
XM_005270143.1:c.2438-10T>C	XP_005270200.1:n.2438-10T>C
NM_003373.4:c.2435-10T>C	NP_003364.1:n.2435-10T>C
NM_014000.3:c.2435-10T>C MANE Select	NP_054706.1:n.2435-10T>C