Canonical Allele Identifier: CA4278243

Gene: KCTD7

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66638306G>A , CM000669.2:g.66638306G>A	GRCh38
NC_000007.13:g.66103293G>A , CM000669.1:g.66103293G>A	GRCh37
NC_000007.12:g.65740728G>A	NCBI36
NG_028110.1:g.14426G>A
NG_028110.2:g.14426G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_153033.5:c.368G>A MANE Select	NP_694578.1:p.Arg123Gln
ENST00000639828.2:c.368G>A MANE Select	ENSP00000492240.1:p.Arg123Gln
NM_001167961.2:c.368G>A	NP_001161433.1:p.Arg123Gln
NM_153033.4:c.368G>A	NP_694578.1:p.Arg123Gln
ENST00000275532.7:c.368G>A	ENSP00000275532.3:p.Arg123Gln
ENST00000275532.8:c.368G>A	ENSP00000275532.4:p.Arg123Gln
ENST00000443322.1:c.368G>A	ENSP00000411624.1:p.Arg123Gln
ENST00000449064.5:c.198G>A	ENSP00000388463.1:p.Ser66=
ENST00000449064.6:c.346G>A
ENST00000503687.1:c.198G>A	ENSP00000421074.1:p.Ser66=
ENST00000503687.2:c.198G>A	ENSP00000421074.1:p.Ser66=
ENST00000638524.1:c.193G>A
ENST00000638540.1:c.172G>A
ENST00000639879.1:c.368G>A	ENSP00000492161.1:p.Arg123Gln
ENST00000640234.1:c.238G>A
ENST00000640385.1:c.368G>A	ENSP00000491193.1:p.Arg123Gln
ENST00000640851.1:c.368G>A	ENSP00000492577.1:p.Arg123Gln