Canonical Allele Identifier: CA9983472
Gene: C21orf91 HGNC NCBI
COSMIC:
COSM3758808 (not active)
MyVariant.info:
GRCh38 chr21:g.17796901G>C
GRCh37 chr21:g.19169218G>C
Revel Score:
ENST00000284881 (MANE Select) 0.035
ENST00000400559 0.035
ENST00000400558 0.035
ENST00000405964 0.035
gnomAD v2:
21:19169218 G / C
gnomAD v3:
21:17796901 G / C
gnomAD v4:
chr21-17796901-G-C
Joint Max Group AF 0.38466087 (EAS)
Genomes Max Group AF 0.38439565 (EAS)
Exomes Max Group AF 0.38316151 (EAS)
dbSNP:
2824495
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.17796901G>C , CM000683.2:g.17796901G>C GRCh38
NC_000021.8:g.19169218G>C , CM000683.1:g.19169218G>C GRCh37
NC_000021.7:g.18091089G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000284881.9:c.345C>G MANE Select ENSP00000284881.4:p.Asn115Lys
ENST00000284881.8:c.345C>G ENSP00000284881.4:p.Asn115Lys
ENST00000400558.7:c.345C>G ENSP00000383403.3:p.Asn115Lys
ENST00000400559.7:c.345C>G ENSP00000383404.3:p.Asn115Lys
ENST00000405964.2:c.345C>G ENSP00000385566.2:p.Asn115Lys
ENST00000493464.1:n.566C>G
NM_001100420.1:c.345C>G NP_001093890.1:p.Asn115Lys
NM_001100421.1:c.345C>G NP_001093891.1:p.Asn115Lys
NM_017447.3:c.345C>G NP_059143.3:p.Asn115Lys
NM_001100420.2:c.345C>G MANE Select NP_001093890.1:p.Asn115Lys
NM_001100421.2:c.345C>G NP_001093891.1:p.Asn115Lys
NM_017447.4:c.345C>G NP_059143.3:p.Asn115Lys
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