Canonical Allele Identifier: CA367697239

Gene: KCTD7

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66639047G>C , CM000669.2:g.66639047G>C	GRCh38
NC_000007.13:g.66104034G>C , CM000669.1:g.66104034G>C	GRCh37
NC_000007.12:g.65741469G>C	NCBI36
NG_028110.1:g.15167G>C
NG_028110.2:g.15167G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_153033.5:c.685G>C MANE Select	NP_694578.1:p.Asp229His
ENST00000639828.2:c.685G>C MANE Select	ENSP00000492240.1:p.Asp229His
NM_001167961.2:c.685G>C	NP_001161433.1:p.Asp229His
NM_153033.4:c.685G>C	NP_694578.1:p.Asp229His
ENST00000275532.7:c.685G>C	ENSP00000275532.3:p.Asp229His
ENST00000275532.8:c.645G>C	ENSP00000275532.4:p.Trp215Cys
ENST00000443322.1:c.685G>C	ENSP00000411624.1:p.Asp229His
ENST00000449064.6:c.505+118G>C
ENST00000503687.1:c.397+118G>C	ENSP00000421074.1:n.397+118G>C
ENST00000503687.2:c.397+118G>C	ENSP00000421074.1:n.397+118G>C
ENST00000638524.1:c.510G>C
ENST00000638540.1:c.489G>C
ENST00000639879.1:c.*548G>C	ENSP00000492161.1:n.*548G>C
ENST00000640234.1:c.437+118G>C
ENST00000640385.1:c.685G>C	ENSP00000491193.1:p.Asp229His
ENST00000640601.1:c.192G>C
ENST00000640851.1:c.568-81G>C	ENSP00000492577.1:n.568-81G>C