Canonical Allele Identifier: CA10647368
Gene: CTF1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.30903305T>C
GRCh37 chr16:g.30914626T>C
gnomAD v2:
16:30914626 T / C
gnomAD v3:
16:30903305 T / C
gnomAD v4:
chr16-30903305-T-C
Joint Max Group AF 0.88582807 (EAS)
Genomes Max Group AF 0.88531207 (EAS)
Exomes Max Group AF 0.70071264 (EAS)
dbSNP:
1046276
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30903305T>C , CM000678.2:g.30903305T>C GRCh38
NC_000016.9:g.30914626T>C , CM000678.1:g.30914626T>C GRCh37
NC_000016.8:g.30822127T>C NCBI36
NG_009171.1:g.11699T>C , LRG_408:g.11699T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000279804.3:c.*766T>C MANE Select ENSP00000279804.2:n.*766T>C
ENST00000279804.2:c.*766T>C ENSP00000279804.2:n.*766T>C
ENST00000395019.3:c.*766T>C ENSP00000378465.3:n.*766T>C
NM_001142544.1:c.*766T>C NP_001136016.1:n.*766T>C
NM_001330.3:c.*766T>C , LRG_408t1:c.*766T>C NP_001321.1:n.*766T>C
XM_011545759.1:c.*766T>C XP_011544061.1:n.*766T>C
XM_011545760.1:c.*766T>C XP_011544062.1:n.*766T>C
XM_011545759.2:c.*766T>C XP_011544061.1:n.*766T>C
XM_011545760.2:c.*766T>C XP_011544062.1:n.*766T>C
NM_001142544.2:c.*766T>C NP_001136016.1:n.*766T>C
NM_001142544.3:c.*766T>C NP_001136016.1:n.*766T>C
NM_001330.5:c.*766T>C MANE Select NP_001321.1:n.*766T>C
NR_165660.1:n.1510T>C
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