Canonical Allele Identifier: CA470162773

Gene: VCL

Linked Data

• ClinVar Variation Id: 1673140
• ClinVar RCV Id: RCV002213618 ; RCV003289472
• dbSNP Id: rs1840045095
• gnomAD v3: 10-74101016-G-A
• gnomAD v4: 10-74101016-G-A
• MyVariant Identifiers: chr10:g.75860774G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74101016G>A , CM000672.2:g.74101016G>A	GRCh38
NC_000010.10:g.75860774G>A , CM000672.1:g.75860774G>A	GRCh37
NC_000010.9:g.75530780G>A	NCBI36
NG_008868.1:g.107903G>A , LRG_383:g.107903G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000211998.10:c.1941G>A MANE Select	ENSP00000211998.5:p.Ala647=
ENST00000211998.8:c.1941G>A	ENSP00000211998.4:p.Ala647=
ENST00000372755.7:c.1941G>A	ENSP00000361841.3:p.Ala647=
ENST00000436396.1:c.957G>A	ENSP00000415489.1:p.Ala319=
ENST00000478896.2:n.332-38G>A
ENST00000623461.3:n.4744G>A
ENST00000624354.3:c.*1696G>A	ENSP00000485551.1:n.*1696G>A
NM_003373.3:c.1941G>A	NP_003364.1:p.Ala647=
NM_014000.2:c.1941G>A , LRG_383t1:c.1941G>A	NP_054706.1:p.Ala647=
XM_005270142.1:c.1944G>A	XP_005270199.1:p.Ala648=
XM_005270143.1:c.1944G>A	XP_005270200.1:p.Ala648=
NM_003373.4:c.1941G>A	NP_003364.1:p.Ala647=
NM_014000.3:c.1941G>A MANE Select	NP_054706.1:p.Ala647=