Canonical Allele Identifier: CA594395657

Gene: VCL

Linked Data

• ClinVar Variation Id: 1419829
• ClinVar RCV Id: RCV001910653
• dbSNP Id: rs1261609577
• gnomAD v2: 10-75842307-C-T
• gnomAD v4: 10-74082549-C-T
• MyVariant Identifiers: chr10:g.75842307C>T (hg19) ; chr10:g.74082549C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74082549C>T , CM000672.2:g.74082549C>T	GRCh38
NC_000010.10:g.75842307C>T , CM000672.1:g.75842307C>T	GRCh37
NC_000010.9:g.75512313C>T	NCBI36
NG_008868.1:g.89436C>T , LRG_383:g.89436C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000211998.10:c.874+5C>T MANE Select	ENSP00000211998.5:n.874+5C>T
ENST00000211998.8:c.874+5C>T	ENSP00000211998.4:n.874+5C>T
ENST00000372755.7:c.874+5C>T	ENSP00000361841.3:n.874+5C>T
ENST00000478896.2:n.332-18505C>T
ENST00000623461.3:n.3677+5C>T
ENST00000624354.3:c.*629+5C>T	ENSP00000485551.1:n.*629+5C>T
NM_003373.3:c.874+5C>T	NP_003364.1:n.874+5C>T
NM_014000.2:c.874+5C>T , LRG_383t1:c.874+5C>T	NP_054706.1:n.874+5C>T
XM_005270142.1:c.877+5C>T	XP_005270199.1:n.877+5C>T
XM_005270143.1:c.877+5C>T	XP_005270200.1:n.877+5C>T
XR_001747501.1:n.90-4822G>A
NM_003373.4:c.874+5C>T	NP_003364.1:n.874+5C>T
NM_014000.3:c.874+5C>T MANE Select	NP_054706.1:n.874+5C>T