Canonical Allele Identifier: CA1714178036
Community Standard Title: NM_153033.5(KCTD7):c.335G= (p.Arg112=)
Gene: KCTD7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66638273G= , CM000669.2:g.66638273G= GRCh38
NC_000007.13:g.66103260G= , CM000669.1:g.66103260G= GRCh37
NC_000007.12:g.65740695G= NCBI36
NG_028110.1:g.14393G=
NG_028110.2:g.14393G=

Transcript Alleles

HGVS Amino-acid Change
NM_153033.5:c.335G= MANE Select NP_694578.1:p.Arg112=
ENST00000639828.2:c.335G= MANE Select ENSP00000492240.1:p.Arg112=
NM_001167961.2:c.335G= NP_001161433.1:p.Arg112=
NM_153033.4:c.335G= NP_694578.1:p.Arg112=
ENST00000275532.7:c.335G= ENSP00000275532.3:p.Arg112=
ENST00000275532.8:c.335G= ENSP00000275532.4:p.Arg112=
ENST00000443322.1:c.335G= ENSP00000411624.1:p.Arg112=
ENST00000449064.5:c.165G= ENSP00000388463.1:p.Ala55=
ENST00000449064.6:c.313G=
ENST00000503687.1:c.165G= ENSP00000421074.1:p.Ala55=
ENST00000503687.2:c.165G= ENSP00000421074.1:p.Ala55=
ENST00000638524.1:c.160G=
ENST00000638540.1:c.139G=
ENST00000639879.1:c.335G= ENSP00000492161.1:p.Arg112=
ENST00000640234.1:c.205G=
ENST00000640385.1:c.335G= ENSP00000491193.1:p.Arg112=
ENST00000640851.1:c.335G= ENSP00000492577.1:p.Arg112=