Canonical Allele Identifier: CA5562771

Gene: VCL

Linked Data

• ClinVar Variation Id: 2188940
• ClinVar RCV Id: RCV002636673 ; RCV003320918
• dbSNP Id: rs371583362
• ExAC: 10:75830814 G / T
• gnomAD v2: 10-75830814-G-T
• gnomAD v3: 10-74071056-G-T
• gnomAD v4: 10-74071056-G-T
• MyVariant Identifiers: chr10:g.75830814G>T (hg19) ; chr10:g.74071056G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74071056G>T , CM000672.2:g.74071056G>T	GRCh38
NC_000010.10:g.75830814G>T , CM000672.1:g.75830814G>T	GRCh37
NC_000010.9:g.75500820G>T	NCBI36
NG_008868.1:g.77943G>T , LRG_383:g.77943G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000211998.10:c.472G>T MANE Select	ENSP00000211998.5:p.Val158Phe
ENST00000211998.8:c.472G>T	ENSP00000211998.4:p.Val158Phe
ENST00000372755.7:c.472G>T	ENSP00000361841.3:p.Val158Phe
ENST00000478896.2:n.331+27903G>T
ENST00000623461.3:n.430G>T
ENST00000624354.3:c.*227G>T	ENSP00000485551.1:n.*227G>T
NM_003373.3:c.472G>T	NP_003364.1:p.Val158Phe
NM_014000.2:c.472G>T , LRG_383t1:c.472G>T	NP_054706.1:p.Val158Phe
XM_005270142.1:c.472G>T	XP_005270199.1:p.Val158Phe
XM_005270143.1:c.472G>T	XP_005270200.1:p.Val158Phe
NM_003373.4:c.472G>T	NP_003364.1:p.Val158Phe
NM_014000.3:c.472G>T MANE Select	NP_054706.1:p.Val158Phe