Canonical Allele Identifier: CA367696600
Gene: KCTD7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66638864G>T , CM000669.2:g.66638864G>T GRCh38
NC_000007.13:g.66103851G>T , CM000669.1:g.66103851G>T GRCh37
NC_000007.12:g.65741286G>T NCBI36
NG_028110.1:g.14984G>T
NG_028110.2:g.14984G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000275532.8:c.462G>T ENSP00000275532.4:p.Trp154Cys
ENST00000449064.6:c.440G>T
ENST00000503687.2:c.332G>T ENSP00000421074.1:p.Gly111Val
ENST00000638524.1:c.327G>T
ENST00000638540.1:c.306G>T
ENST00000639828.2:c.502G>T MANE Select ENSP00000492240.1:p.Glu168Ter
ENST00000639879.1:c.*365G>T ENSP00000492161.1:n.*365G>T
ENST00000640234.1:c.372G>T
ENST00000640385.1:c.502G>T ENSP00000491193.1:p.Glu168Ter
ENST00000640601.1:c.9G>T
ENST00000640851.1:c.502G>T ENSP00000492577.1:p.Glu168Ter
ENST00000275532.7:c.502G>T ENSP00000275532.3:p.Glu168Ter
ENST00000443322.1:c.502G>T ENSP00000411624.1:p.Glu168Ter
ENST00000449064.5:c.332G>T ENSP00000388463.1:p.Gly111Val
ENST00000503687.1:c.332G>T ENSP00000421074.1:p.Gly111Val
NM_001167961.2:c.502G>T NP_001161433.1:p.Glu168Ter
NM_153033.4:c.502G>T NP_694578.1:p.Glu168Ter
NM_153033.5:c.502G>T MANE Select NP_694578.1:p.Glu168Ter