Canonical Allele Identifier: CA179597
Gene: VCL HGNC NCBI

Linked Data

ClinVar Variation Id: 166536
ClinVar RCV Id: RCV000152641 RCV000229322 RCV000243984 RCV001529639 RCV003927474
dbSNP Id: rs143702799
ExAC: 10:75830834 T / G
gnomAD v2: 10-75830834-T-G
gnomAD v3: 10-74071076-T-G
gnomAD v4: 10-74071076-T-G
MyVariant Identifiers: chr10:g.75830834T>G (hg19) chr10:g.74071076T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.74071076T>G , CM000672.2:g.74071076T>G GRCh38
NC_000010.10:g.75830834T>G , CM000672.1:g.75830834T>G GRCh37
NC_000010.9:g.75500840T>G NCBI36
NG_008868.1:g.77963T>G , LRG_383:g.77963T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000211998.10:c.492T>G MANE Select ENSP00000211998.5:p.Leu164=
ENST00000211998.8:c.492T>G ENSP00000211998.4:p.Leu164=
ENST00000372755.7:c.492T>G ENSP00000361841.3:p.Leu164=
ENST00000478896.2:n.331+27923T>G
ENST00000623461.3:n.450T>G
ENST00000624354.3:c.*247T>G ENSP00000485551.1:n.*247T>G
NM_003373.3:c.492T>G NP_003364.1:p.Leu164=
NM_014000.2:c.492T>G , LRG_383t1:c.492T>G NP_054706.1:p.Leu164=
XM_005270142.1:c.492T>G XP_005270199.1:p.Leu164=
XM_005270143.1:c.492T>G XP_005270200.1:p.Leu164=
NM_003373.4:c.492T>G NP_003364.1:p.Leu164=
NM_014000.3:c.492T>G MANE Select NP_054706.1:p.Leu164=
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