Canonical Allele Identifier: CA4278294

Gene: KCTD7

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66638926C>G , CM000669.2:g.66638926C>G	GRCh38
NC_000007.13:g.66103913C>G , CM000669.1:g.66103913C>G	GRCh37
NC_000007.12:g.65741348C>G	NCBI36
NG_028110.1:g.15046C>G
NG_028110.2:g.15046C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_153033.5:c.564C>G MANE Select	NP_694578.1:p.Leu188=
ENST00000639828.2:c.564C>G MANE Select	ENSP00000492240.1:p.Leu188=
NM_001167961.2:c.564C>G	NP_001161433.1:p.Leu188=
NM_153033.4:c.564C>G	NP_694578.1:p.Leu188=
ENST00000275532.7:c.564C>G	ENSP00000275532.3:p.Leu188=
ENST00000275532.8:c.524C>G	ENSP00000275532.4:p.Ser175Ter
ENST00000443322.1:c.564C>G	ENSP00000411624.1:p.Leu188=
ENST00000449064.5:c.394C>G	ENSP00000388463.1:p.Gln132Glu
ENST00000449064.6:c.502C>G
ENST00000503687.1:c.394C>G	ENSP00000421074.1:p.Gln132Glu
ENST00000503687.2:c.394C>G	ENSP00000421074.1:p.Gln132Glu
ENST00000638524.1:c.389C>G
ENST00000638540.1:c.368C>G
ENST00000639879.1:c.*427C>G	ENSP00000492161.1:n.*427C>G
ENST00000640234.1:c.434C>G
ENST00000640385.1:c.564C>G	ENSP00000491193.1:p.Leu188=
ENST00000640601.1:c.71C>G
ENST00000640851.1:c.564C>G	ENSP00000492577.1:p.Leu188=