Canonical Allele Identifier: CA367696583
Gene: KCTD7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66638858C>T , CM000669.2:g.66638858C>T GRCh38
NC_000007.13:g.66103845C>T , CM000669.1:g.66103845C>T GRCh37
NC_000007.12:g.65741280C>T NCBI36
NG_028110.1:g.14978C>T
NG_028110.2:g.14978C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000275532.8:c.456C>T ENSP00000275532.4:p.Thr152=
ENST00000449064.6:c.434C>T
ENST00000503687.2:c.326C>T ENSP00000421074.1:p.Pro109Leu
ENST00000638524.1:c.321C>T
ENST00000638540.1:c.300C>T
ENST00000639828.2:c.496C>T MANE Select ENSP00000492240.1:p.His166Tyr
ENST00000639879.1:c.*359C>T ENSP00000492161.1:n.*359C>T
ENST00000640234.1:c.366C>T
ENST00000640385.1:c.496C>T ENSP00000491193.1:p.His166Tyr
ENST00000640601.1:c.3C>T
ENST00000640851.1:c.496C>T ENSP00000492577.1:p.His166Tyr
ENST00000275532.7:c.496C>T ENSP00000275532.3:p.His166Tyr
ENST00000443322.1:c.496C>T ENSP00000411624.1:p.His166Tyr
ENST00000449064.5:c.326C>T ENSP00000388463.1:p.Pro109Leu
ENST00000503687.1:c.326C>T ENSP00000421074.1:p.Pro109Leu
NM_001167961.2:c.496C>T NP_001161433.1:p.His166Tyr
NM_153033.4:c.496C>T NP_694578.1:p.His166Tyr
NM_153033.5:c.496C>T MANE Select NP_694578.1:p.His166Tyr