Canonical Allele Identifier: CA377264782

Gene: VCL

Linked Data

• ClinVar Variation Id: 2034328
• ClinVar RCV Id: RCV002885421
• gnomAD v4: 10-74112036-C-T
• MyVariant Identifiers: chr10:g.75871794C>T (hg19) ; chr10:g.74112036C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74112036C>T , CM000672.2:g.74112036C>T	GRCh38
NC_000010.10:g.75871794C>T , CM000672.1:g.75871794C>T	GRCh37
NC_000010.9:g.75541800C>T	NCBI36
NG_008868.1:g.118923C>T , LRG_383:g.118923C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000211998.10:c.2873C>T MANE Select	ENSP00000211998.5:p.Ser958Phe
ENST00000211998.8:c.2873C>T	ENSP00000211998.4:p.Ser958Phe
ENST00000372755.7:c.2746-2148C>T	ENSP00000361841.3:n.2746-2148C>T
ENST00000436396.1:c.1889C>T	ENSP00000415489.1:p.Ser630Phe
ENST00000623461.3:n.5549-2148C>T
ENST00000624354.3:c.*2628C>T	ENSP00000485551.1:n.*2628C>T
NM_003373.3:c.2746-2148C>T	NP_003364.1:n.2746-2148C>T
NM_014000.2:c.2873C>T , LRG_383t1:c.2873C>T	NP_054706.1:p.Ser958Phe
XM_005270142.1:c.2876C>T	XP_005270199.1:p.Ser959Phe
XM_005270143.1:c.2749-2148C>T	XP_005270200.1:n.2749-2148C>T
NM_003373.4:c.2746-2148C>T	NP_003364.1:n.2746-2148C>T
NM_014000.3:c.2873C>T MANE Select	NP_054706.1:p.Ser958Phe