Canonical Allele Identifier: CA367695540
Gene: KCTD7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66633327T>G , CM000669.2:g.66633327T>G GRCh38
NC_000007.13:g.66098314T>G , CM000669.1:g.66098314T>G GRCh37
NC_000007.12:g.65735749T>G NCBI36
NG_028110.1:g.9447T>G
NG_028110.2:g.9447T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000275532.8:c.197T>G ENSP00000275532.4:p.Leu66Arg
ENST00000449064.6:c.175T>G
ENST00000503687.2:c.144+4119T>G ENSP00000421074.1:n.144+4119T>G
ENST00000638524.1:c.139+4119T>G
ENST00000638540.1:c.118+4119T>G
ENST00000639828.2:c.197T>G MANE Select ENSP00000492240.1:p.Leu66Arg
ENST00000639879.1:c.197T>G ENSP00000492161.1:p.Leu66Arg
ENST00000640234.1:c.67T>G
ENST00000640385.1:c.197T>G ENSP00000491193.1:p.Leu66Arg
ENST00000640851.1:c.197T>G ENSP00000492577.1:p.Leu66Arg
ENST00000275532.7:c.197T>G ENSP00000275532.3:p.Leu66Arg
ENST00000443322.1:c.197T>G ENSP00000411624.1:p.Leu66Arg
ENST00000449064.5:c.144+4119T>G ENSP00000388463.1:n.144+4119T>G
ENST00000503687.1:c.144+4119T>G ENSP00000421074.1:n.144+4119T>G
NM_001167961.2:c.197T>G NP_001161433.1:p.Leu66Arg
NM_153033.4:c.197T>G NP_694578.1:p.Leu66Arg
NM_153033.5:c.197T>G MANE Select NP_694578.1:p.Leu66Arg