Canonical Allele Identifier: CA367696115

Gene: KCTD7

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66638284C>T , CM000669.2:g.66638284C>T	GRCh38
NC_000007.13:g.66103271C>T , CM000669.1:g.66103271C>T	GRCh37
NC_000007.12:g.65740706C>T	NCBI36
NG_028110.1:g.14404C>T
NG_028110.2:g.14404C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_153033.5:c.346C>T MANE Select	NP_694578.1:p.Leu116Phe
ENST00000639828.2:c.346C>T MANE Select	ENSP00000492240.1:p.Leu116Phe
NM_001167961.2:c.346C>T	NP_001161433.1:p.Leu116Phe
NM_153033.4:c.346C>T	NP_694578.1:p.Leu116Phe
ENST00000275532.7:c.346C>T	ENSP00000275532.3:p.Leu116Phe
ENST00000275532.8:c.346C>T	ENSP00000275532.4:p.Leu116Phe
ENST00000443322.1:c.346C>T	ENSP00000411624.1:p.Leu116Phe
ENST00000449064.5:c.176C>T	ENSP00000388463.1:p.Pro59Leu
ENST00000449064.6:c.324C>T
ENST00000503687.1:c.176C>T	ENSP00000421074.1:p.Pro59Leu
ENST00000503687.2:c.176C>T	ENSP00000421074.1:p.Pro59Leu
ENST00000638524.1:c.171C>T
ENST00000638540.1:c.150C>T
ENST00000639879.1:c.346C>T	ENSP00000492161.1:p.Leu116Phe
ENST00000640234.1:c.216C>T
ENST00000640385.1:c.346C>T	ENSP00000491193.1:p.Leu116Phe
ENST00000640851.1:c.346C>T	ENSP00000492577.1:p.Leu116Phe