Canonical Allele Identifier: CA15543699
Gene: TERF1 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.73038992G>A
GRCh37 chr8:g.73951227G>A
gnomAD v2:
8:73951227 G / A
gnomAD v3:
8:73038992 G / A
gnomAD v4:
chr8-73038992-G-A
Joint Max Group AF 0.70322439 (MID)
Genomes Max Group AF 0.68803449 (NFE)
Exomes Max Group AF 0.69769351 (MID)
ClinVar RCV:
RCV001720355
ClinVar Variation:
1294451
dbSNP:
2306494
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.73038992G>A , CM000670.2:g.73038992G>A GRCh38
NC_000008.10:g.73951227G>A , CM000670.1:g.73951227G>A GRCh37
NC_000008.9:g.74113781G>A NCBI36
NG_029121.1:g.35131G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000276603.10:c.1040-124G>A MANE Select ENSP00000276603.5:n.1040-124G>A
ENST00000517390.2:c.1039+6859G>A ENSP00000430121.2:n.1039+6859G>A
ENST00000676483.1:c.*202-124G>A ENSP00000504467.1:n.*202-124G>A
ENST00000677031.1:n.1063-124G>A
ENST00000678518.1:c.890-124G>A ENSP00000504470.1:n.890-124G>A
ENST00000678860.1:c.1070-124G>A ENSP00000503453.1:n.1070-124G>A
ENST00000678912.1:n.2446-124G>A
ENST00000678997.1:c.*732-124G>A ENSP00000503607.1:n.*732-124G>A
ENST00000679115.1:c.1040-124G>A ENSP00000504760.1:n.1040-124G>A
ENST00000276602.10:c.980-124G>A ENSP00000276602.6:n.980-124G>A
ENST00000276603.9:c.1040-124G>A ENSP00000276603.5:n.1040-124G>A
ENST00000518961.1:n.2182-124G>A
NM_003218.3:c.980-124G>A NP_003209.2:n.980-124G>A
NM_017489.2:c.1040-124G>A NP_059523.2:n.1040-124G>A
XM_005251291.2:c.1130-124G>A XP_005251348.1:n.1130-124G>A
XM_005251292.2:c.1070-124G>A XP_005251349.1:n.1070-124G>A
XM_011517582.1:c.818-124G>A XP_011515884.1:n.818-124G>A
XM_005251291.3:c.1130-124G>A XP_005251348.1:n.1130-124G>A
XM_005251292.3:c.1070-124G>A XP_005251349.1:n.1070-124G>A
XM_011517582.3:c.818-124G>A XP_011515884.1:n.818-124G>A
XM_017013792.1:c.668-124G>A XP_016869281.1:n.668-124G>A
XM_024447246.1:c.728-124G>A XP_024303014.1:n.728-124G>A
XM_024447247.1:c.605-124G>A XP_024303015.1:n.605-124G>A
NM_017489.3:c.1040-124G>A MANE Select NP_059523.2:n.1040-124G>A
NM_003218.4:c.980-124G>A NP_003209.2:n.980-124G>A
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