Canonical Allele Identifier: CA16605935
Gene: VCL HGNC NCBI

Linked Data

ClinVar Variation Id: 378850
ClinVar RCV Id: RCV000440194 RCV001394844 RCV002450967 RCV002502488 RCV003942335
dbSNP Id: rs943734765
gnomAD v2: 10-75877903-T-C
gnomAD v3: 10-74118145-T-C
gnomAD v4: 10-74118145-T-C
MyVariant Identifiers: chr10:g.75877903T>C (hg19) chr10:g.74118145T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.74118145T>C , CM000672.2:g.74118145T>C GRCh38
NC_000010.10:g.75877903T>C , CM000672.1:g.75877903T>C GRCh37
NC_000010.9:g.75547909T>C NCBI36
NG_008868.1:g.125032T>C , LRG_383:g.125032T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000211998.10:c.3381T>C MANE Select ENSP00000211998.5:p.Val1127=
ENST00000211998.8:c.3381T>C ENSP00000211998.4:p.Val1127=
ENST00000372755.7:c.3177T>C ENSP00000361841.3:p.Val1059=
ENST00000436396.1:c.2397T>C ENSP00000415489.1:p.Val799=
ENST00000623461.3:n.5980T>C
NM_003373.3:c.3177T>C NP_003364.1:p.Val1059=
NM_014000.2:c.3381T>C , LRG_383t1:c.3381T>C NP_054706.1:p.Val1127=
XM_005270142.1:c.3384T>C XP_005270199.1:p.Val1128=
XM_005270143.1:c.3180T>C XP_005270200.1:p.Val1060=
NM_003373.4:c.3177T>C NP_003364.1:p.Val1059=
NM_014000.3:c.3381T>C MANE Select NP_054706.1:p.Val1127=
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