Canonical Allele Identifier: CA133718
Gene: CTF1 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.30902065C>T
GRCh37 chr16:g.30913386C>T
gnomAD v2:
16:30913386 C / T
gnomAD v3:
16:30902065 C / T
gnomAD v4:
chr16-30902065-C-T
Joint Max Group AF 0.00009146 (AMR)
Genomes Max Group AF 0.0000529 (AMR)
Exomes Max Group AF 0.00007006 (AMR)
ClinVar Allele:
53342
ClinVar RCV:
RCV000037151
RCV002513472
ClinVar Variation:
44175
dbSNP:
397516646
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.30902065C>T , CM000678.2:g.30902065C>T GRCh38
NC_000016.9:g.30913386C>T , CM000678.1:g.30913386C>T GRCh37
NC_000016.8:g.30820887C>T NCBI36
NG_009171.1:g.10459C>T , LRG_408:g.10459C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000279804.3:c.145-13C>T MANE Select ENSP00000279804.2:n.145-13C>T
ENST00000279804.2:c.145-13C>T ENSP00000279804.2:n.145-13C>T
ENST00000395019.3:c.142-13C>T ENSP00000378465.3:n.142-13C>T
NM_001142544.1:c.142-13C>T NP_001136016.1:n.142-13C>T
NM_001330.3:c.145-13C>T , LRG_408t1:c.145-13C>T NP_001321.1:n.145-13C>T
XM_011545759.1:c.211-13C>T XP_011544061.1:n.211-13C>T
XM_011545760.1:c.169-13C>T XP_011544062.1:n.169-13C>T
XM_011545759.2:c.211-13C>T XP_011544061.1:n.211-13C>T
XM_011545760.2:c.169-13C>T XP_011544062.1:n.169-13C>T
NM_001142544.2:c.142-13C>T NP_001136016.1:n.142-13C>T
NM_001142544.3:c.142-13C>T NP_001136016.1:n.142-13C>T
NM_001330.5:c.145-13C>T MANE Select NP_001321.1:n.145-13C>T
NR_165660.1:n.283-13C>T
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