Canonical Allele Identifier: CA5298643
Gene: TTF1 HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.132401756C>T
GRCh37 chr9:g.135277143C>T
Revel Score:
ENST00000334270 (MANE Select) 0.038
ENST00000245588 0.038
gnomAD v2:
9:135277143 C / T
gnomAD v3:
9:132401756 C / T
gnomAD v4:
chr9-132401756-C-T
Joint Max Group AF 0.00013305 (AFR)
Genomes Max Group AF 0.00007896 (AFR)
Exomes Max Group AF 0.00013982 (AFR)
ClinVar RCV:
RCV004085212
ClinVar Variation:
2227988
dbSNP:
148781108
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132401756C>T , CM000671.2:g.132401756C>T GRCh38
NC_000009.11:g.135277143C>T , CM000671.1:g.135277143C>T GRCh37
NC_000009.10:g.134266964C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000334270.3:c.1066G>A MANE Select ENSP00000333920.2:p.Ala356Thr
ENST00000334270.2:c.1066G>A ENSP00000333920.2:p.Ala356Thr
ENST00000612514.4:c.-178-1498G>A ENSP00000481441.1:n.-178-1498G>A
NM_001205296.1:c.-178-1498G>A NP_001192225.1:n.-178-1498G>A
NM_007344.3:c.1066G>A NP_031370.2:p.Ala356Thr
XM_006717273.2:c.1066G>A XP_006717336.2:p.Ala356Thr
XR_246601.2:n.1155G>A
XR_929838.1:n.1147G>A
NR_134525.1:n.1135G>A
XM_006717273.4:c.1066G>A XP_006717336.2:p.Ala356Thr
NM_007344.4:c.1066G>A MANE Select NP_031370.2:p.Ala356Thr
NR_134525.2:n.1124G>A
NM_001205296.2:c.-178-1498G>A NP_001192225.1:n.-178-1498G>A
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