Canonical Allele Identifier: CA367696606
Gene: KCTD7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66638866G>C , CM000669.2:g.66638866G>C GRCh38
NC_000007.13:g.66103853G>C , CM000669.1:g.66103853G>C GRCh37
NC_000007.12:g.65741288G>C NCBI36
NG_028110.1:g.14986G>C
NG_028110.2:g.14986G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000275532.8:c.464G>C ENSP00000275532.4:p.Ser155Thr
ENST00000449064.6:c.442G>C
ENST00000503687.2:c.334G>C ENSP00000421074.1:p.Ala112Pro
ENST00000638524.1:c.329G>C
ENST00000638540.1:c.308G>C
ENST00000639828.2:c.504G>C MANE Select ENSP00000492240.1:p.Glu168Asp
ENST00000639879.1:c.*367G>C ENSP00000492161.1:n.*367G>C
ENST00000640234.1:c.374G>C
ENST00000640385.1:c.504G>C ENSP00000491193.1:p.Glu168Asp
ENST00000640601.1:c.11G>C
ENST00000640851.1:c.504G>C ENSP00000492577.1:p.Glu168Asp
ENST00000275532.7:c.504G>C ENSP00000275532.3:p.Glu168Asp
ENST00000443322.1:c.504G>C ENSP00000411624.1:p.Glu168Asp
ENST00000449064.5:c.334G>C ENSP00000388463.1:p.Ala112Pro
ENST00000503687.1:c.334G>C ENSP00000421074.1:p.Ala112Pro
NM_001167961.2:c.504G>C NP_001161433.1:p.Glu168Asp
NM_153033.4:c.504G>C NP_694578.1:p.Glu168Asp
NM_153033.5:c.504G>C MANE Select NP_694578.1:p.Glu168Asp