Canonical Allele Identifier: CA4278289

Gene: KCTD7

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66638895C>T , CM000669.2:g.66638895C>T	GRCh38
NC_000007.13:g.66103882C>T , CM000669.1:g.66103882C>T	GRCh37
NC_000007.12:g.65741317C>T	NCBI36
NG_028110.1:g.15015C>T
NG_028110.2:g.15015C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_153033.5:c.533C>T MANE Select	NP_694578.1:p.Ala178Val
ENST00000639828.2:c.533C>T MANE Select	ENSP00000492240.1:p.Ala178Val
NM_001167961.2:c.533C>T	NP_001161433.1:p.Ala178Val
NM_153033.4:c.533C>T	NP_694578.1:p.Ala178Val
ENST00000275532.7:c.533C>T	ENSP00000275532.3:p.Ala178Val
ENST00000275532.8:c.493C>T	ENSP00000275532.4:p.Arg165Trp
ENST00000443322.1:c.533C>T	ENSP00000411624.1:p.Ala178Val
ENST00000449064.5:c.363C>T	ENSP00000388463.1:p.Cys121=
ENST00000449064.6:c.471C>T
ENST00000503687.1:c.363C>T	ENSP00000421074.1:p.Cys121=
ENST00000503687.2:c.363C>T	ENSP00000421074.1:p.Cys121=
ENST00000638524.1:c.358C>T
ENST00000638540.1:c.337C>T
ENST00000639879.1:c.*396C>T	ENSP00000492161.1:n.*396C>T
ENST00000640234.1:c.403C>T
ENST00000640385.1:c.533C>T	ENSP00000491193.1:p.Ala178Val
ENST00000640601.1:c.40C>T
ENST00000640851.1:c.533C>T	ENSP00000492577.1:p.Ala178Val