Canonical Allele Identifier: CA6599419
Gene: SP7 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.53328170C>T
GRCh37 chr12:g.53721954C>T
gnomAD v2:
12:53721954 C / T
gnomAD v3:
12:53328170 C / T
gnomAD v4:
chr12-53328170-C-T
Joint Max Group AF 0.00084359 (AMR)
Genomes Max Group AF 0.00113537 (AMR)
Exomes Max Group AF 0.00081557 (NFE)
ClinVar RCV:
RCV000351342
RCV003640884
ClinVar Variation:
282803
dbSNP:
182820275
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53328170C>T , CM000674.2:g.53328170C>T GRCh38
NC_000012.11:g.53721954C>T , CM000674.1:g.53721954C>T GRCh37
NC_000012.10:g.52008221C>T NCBI36
NG_023391.1:g.13051G>A
NG_023391.2:g.21624G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000536324.4:c.1272G>A MANE Select ENSP00000443827.2:p.Glu424=
ENST00000303846.3:c.1272G>A ENSP00000302812.3:p.Glu424=
ENST00000536324.3:c.1272G>A ENSP00000443827.2:p.Glu424=
ENST00000537210.2:c.1218G>A ENSP00000441367.2:p.Glu406=
NM_001173467.2:c.1272G>A NP_001166938.1:p.Glu424=
NM_001300837.1:c.1218G>A NP_001287766.1:p.Glu406=
NM_152860.1:c.1272G>A NP_690599.1:p.Glu424=
XM_011537900.1:c.1218G>A XP_011536202.1:p.Glu406=
XM_011537901.1:c.1218G>A XP_011536203.1:p.Glu406=
XM_011537900.2:c.1218G>A XP_011536202.1:p.Glu406=
NM_001173467.3:c.1272G>A MANE Select NP_001166938.1:p.Glu424=
NM_152860.2:c.1272G>A NP_690599.1:p.Glu424=
NM_001300837.2:c.1218G>A NP_001287766.1:p.Glu406=
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