Canonical Allele Identifier: CA367696984

Gene: KCTD7

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66638978C>A , CM000669.2:g.66638978C>A	GRCh38
NC_000007.13:g.66103965C>A , CM000669.1:g.66103965C>A	GRCh37
NC_000007.12:g.65741400C>A	NCBI36
NG_028110.1:g.15098C>A
NG_028110.2:g.15098C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_153033.5:c.616C>A MANE Select	NP_694578.1:p.Leu206Ile
ENST00000639828.2:c.616C>A MANE Select	ENSP00000492240.1:p.Leu206Ile
NM_001167961.2:c.616C>A	NP_001161433.1:p.Leu206Ile
NM_153033.4:c.616C>A	NP_694578.1:p.Leu206Ile
ENST00000275532.7:c.616C>A	ENSP00000275532.3:p.Leu206Ile
ENST00000275532.8:c.576C>A	ENSP00000275532.4:p.Arg192=
ENST00000443322.1:c.616C>A	ENSP00000411624.1:p.Leu206Ile
ENST00000449064.6:c.505+49C>A
ENST00000503687.1:c.397+49C>A	ENSP00000421074.1:n.397+49C>A
ENST00000503687.2:c.397+49C>A	ENSP00000421074.1:n.397+49C>A
ENST00000638524.1:c.441C>A
ENST00000638540.1:c.420C>A
ENST00000639879.1:c.*479C>A	ENSP00000492161.1:n.*479C>A
ENST00000640234.1:c.437+49C>A
ENST00000640385.1:c.616C>A	ENSP00000491193.1:p.Leu206Ile
ENST00000640601.1:c.123C>A
ENST00000640851.1:c.567+49C>A	ENSP00000492577.1:n.567+49C>A