Canonical Allele Identifier: CA367696423
Gene: KCTD7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66638382G>C , CM000669.2:g.66638382G>C GRCh38
NC_000007.13:g.66103369G>C , CM000669.1:g.66103369G>C GRCh37
NC_000007.12:g.65740804G>C NCBI36
NG_028110.1:g.14502G>C
NG_028110.2:g.14502G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000275532.8:c.444G>C ENSP00000275532.4:p.Lys148Asn
ENST00000449064.6:c.422G>C
ENST00000503687.2:c.274G>C ENSP00000421074.1:p.Gly92Arg
ENST00000638524.1:c.269G>C
ENST00000638540.1:c.248G>C
ENST00000639828.2:c.444G>C MANE Select ENSP00000492240.1:p.Lys148Asn
ENST00000639879.1:c.444G>C ENSP00000492161.1:p.Lys148Asn
ENST00000640234.1:c.314G>C
ENST00000640385.1:c.444G>C ENSP00000491193.1:p.Lys148Asn
ENST00000640851.1:c.444G>C ENSP00000492577.1:p.Lys148Asn
ENST00000275532.7:c.444G>C ENSP00000275532.3:p.Lys148Asn
ENST00000443322.1:c.444G>C ENSP00000411624.1:p.Lys148Asn
ENST00000449064.5:c.274G>C ENSP00000388463.1:p.Gly92Arg
ENST00000503687.1:c.274G>C ENSP00000421074.1:p.Gly92Arg
NM_001167961.2:c.444G>C NP_001161433.1:p.Lys148Asn
NM_153033.4:c.444G>C NP_694578.1:p.Lys148Asn
NM_153033.5:c.444G>C MANE Select NP_694578.1:p.Lys148Asn