Canonical Allele Identifier: CA1273143
Gene: KIAA1614 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.180917004C>T
GRCh37 chr1:g.180886140C>T
Revel Score:
ENST00000367588 (MANE Select) 0.216
gnomAD v2:
1:180886140 C / T
gnomAD v3:
1:180917004 C / T
gnomAD v4:
chr1-180917004-C-T
Joint Max Group AF 0.0389433 (SAS)
Genomes Max Group AF 0.03030772 (SAS)
Exomes Max Group AF 0.03921416 (SAS)
dbSNP:
79485039
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.180917004C>T , CM000663.2:g.180917004C>T GRCh38
NC_000001.10:g.180886140C>T , CM000663.1:g.180886140C>T GRCh37
NC_000001.9:g.179152763C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000367588.9:c.901C>T MANE Select ENSP00000356560.4:p.Arg301Cys
ENST00000367588.8:c.901C>T ENSP00000356560.4:p.Arg301Cys
NM_020950.1:c.901C>T NP_066001.1:p.Arg301Cys
NM_020950.2:c.901C>T MANE Select NP_066001.1:p.Arg301Cys
Search 100 bp 5'
Search 100 bp 3'