Canonical Allele Identifier: CA367696590
Gene: KCTD7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66638861T>A , CM000669.2:g.66638861T>A GRCh38
NC_000007.13:g.66103848T>A , CM000669.1:g.66103848T>A GRCh37
NC_000007.12:g.65741283T>A NCBI36
NG_028110.1:g.14981T>A
NG_028110.2:g.14981T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000275532.8:c.459T>A ENSP00000275532.4:p.Thr153=
ENST00000449064.6:c.437T>A
ENST00000503687.2:c.329T>A ENSP00000421074.1:p.Leu110His
ENST00000638524.1:c.324T>A
ENST00000638540.1:c.303T>A
ENST00000639828.2:c.499T>A MANE Select ENSP00000492240.1:p.Leu167Met
ENST00000639879.1:c.*362T>A ENSP00000492161.1:n.*362T>A
ENST00000640234.1:c.369T>A
ENST00000640385.1:c.499T>A ENSP00000491193.1:p.Leu167Met
ENST00000640601.1:c.6T>A
ENST00000640851.1:c.499T>A ENSP00000492577.1:p.Leu167Met
ENST00000275532.7:c.499T>A ENSP00000275532.3:p.Leu167Met
ENST00000443322.1:c.499T>A ENSP00000411624.1:p.Leu167Met
ENST00000449064.5:c.329T>A ENSP00000388463.1:p.Leu110His
ENST00000503687.1:c.329T>A ENSP00000421074.1:p.Leu110His
NM_001167961.2:c.499T>A NP_001161433.1:p.Leu167Met
NM_153033.4:c.499T>A NP_694578.1:p.Leu167Met
NM_153033.5:c.499T>A MANE Select NP_694578.1:p.Leu167Met