Canonical Allele Identifier: CA291855
Gene: KCTD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 138057
dbSNP Id: rs145238250
gnomAD v2: 7-66103309-G-A
gnomAD v3: 7-66638322-G-A
gnomAD v4: 7-66638322-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66638322G>A , CM000669.2:g.66638322G>A GRCh38
NC_000007.13:g.66103309G>A , CM000669.1:g.66103309G>A GRCh37
NC_000007.12:g.65740744G>A NCBI36
NG_028110.1:g.14442G>A
NG_028110.2:g.14442G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000275532.8:c.384G>A ENSP00000275532.4:p.Glu128=
ENST00000449064.6:c.362G>A
ENST00000503687.2:c.214G>A ENSP00000421074.1:p.Gly72Ser
ENST00000638524.1:c.209G>A
ENST00000638540.1:c.188G>A
ENST00000639828.2:c.384G>A MANE Select ENSP00000492240.1:p.Glu128=
ENST00000639879.1:c.384G>A ENSP00000492161.1:p.Glu128=
ENST00000640234.1:c.254G>A
ENST00000640385.1:c.384G>A ENSP00000491193.1:p.Glu128=
ENST00000640851.1:c.384G>A ENSP00000492577.1:p.Glu128=
ENST00000275532.7:c.384G>A ENSP00000275532.3:p.Glu128=
ENST00000443322.1:c.384G>A ENSP00000411624.1:p.Glu128=
ENST00000449064.5:c.214G>A ENSP00000388463.1:p.Gly72Ser
ENST00000503687.1:c.214G>A ENSP00000421074.1:p.Gly72Ser
NM_001167961.2:c.384G>A NP_001161433.1:p.Glu128=
NM_153033.4:c.384G>A NP_694578.1:p.Glu128=
NM_153033.5:c.384G>A MANE Select NP_694578.1:p.Glu128=