Canonical Allele Identifier: CA5562920

Gene: VCL

Linked Data

• ClinVar Variation Id: 699928
• ClinVar RCV Id: RCV002390792
• dbSNP Id: rs373079313
• ExAC: 10:75848972 G / C
• gnomAD v2: 10-75848972-G-C
• gnomAD v3: 10-74089214-G-C
• gnomAD v4: 10-74089214-G-C
• MyVariant Identifiers: chr10:g.75848972G>C (hg19) ; chr10:g.74089214G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74089214G>C , CM000672.2:g.74089214G>C	GRCh38
NC_000010.10:g.75848972G>C , CM000672.1:g.75848972G>C	GRCh37
NC_000010.9:g.75518978G>C	NCBI36
NG_008868.1:g.96101G>C , LRG_383:g.96101G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000211998.10:c.1041G>C MANE Select	ENSP00000211998.5:p.Pro347=
ENST00000211998.8:c.1041G>C	ENSP00000211998.4:p.Pro347=
ENST00000372755.7:c.1041G>C	ENSP00000361841.3:p.Pro347=
ENST00000436396.1:c.57G>C	ENSP00000415489.1:p.Pro19=
ENST00000478896.2:n.332-11840G>C
ENST00000623461.3:n.3844G>C
ENST00000624354.3:c.*796G>C	ENSP00000485551.1:n.*796G>C
NM_003373.3:c.1041G>C	NP_003364.1:p.Pro347=
NM_014000.2:c.1041G>C , LRG_383t1:c.1041G>C	NP_054706.1:p.Pro347=
XM_005270142.1:c.1044G>C	XP_005270199.1:p.Pro348=
XM_005270143.1:c.1044G>C	XP_005270200.1:p.Pro348=
XR_001747501.1:n.89+718C>G
NM_003373.4:c.1041G>C	NP_003364.1:p.Pro347=
NM_014000.3:c.1041G>C MANE Select	NP_054706.1:p.Pro347=