Canonical Allele Identifier: CA8941021

Gene: MOCOS

Linked Data

• ClinVar Variation Id: 253162
• ClinVar RCV Id: RCV000239542 ; RCV003313948
• dbSNP Id: rs750896617
• ExAC: 18:33840055 C / T
• gnomAD v2: 18-33840055-C-T
• gnomAD v3: 18-36260092-C-T
• gnomAD v4: 18-36260092-C-T
• COSMIC: COSM230771
• MyVariant Identifiers: chr18:g.33840055C>T (hg19) ; chr18:g.36260092C>T (hg38)
• PubMed: PMID:17368066

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.36260092C>T , CM000680.2:g.36260092C>T	GRCh38
NC_000018.9:g.33840055C>T , CM000680.1:g.33840055C>T	GRCh37
NC_000018.8:g.32094053C>T	NCBI36
NG_053177.1:g.77883C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261326.6:c.2326C>T MANE Select	ENSP00000261326.4:p.Arg776Cys
ENST00000261326.5:c.2326C>T	ENSP00000261326.4:p.Arg776Cys
ENST00000588132.1:n.283C>T
NM_017947.2:c.2326C>T	NP_060417.2:p.Arg776Cys
NM_017947.3:c.2326C>T	NP_060417.3:p.Arg776Cys
NM_017947.4:c.2326C>T MANE Select	NP_060417.4:p.Arg776Cys