Canonical Allele Identifier: CA367696577
Gene: KCTD7 HGNC NCBI

Linked Data

gnomAD v4: 7-66638856-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66638856A>T , CM000669.2:g.66638856A>T GRCh38
NC_000007.13:g.66103843A>T , CM000669.1:g.66103843A>T GRCh37
NC_000007.12:g.65741278A>T NCBI36
NG_028110.1:g.14976A>T
NG_028110.2:g.14976A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000275532.8:c.454A>T ENSP00000275532.4:p.Thr152Ser
ENST00000449064.6:c.432A>T
ENST00000503687.2:c.324A>T ENSP00000421074.1:p.Arg108Ser
ENST00000638524.1:c.319A>T
ENST00000638540.1:c.298A>T
ENST00000639828.2:c.494A>T MANE Select ENSP00000492240.1:p.Asp165Val
ENST00000639879.1:c.*357A>T ENSP00000492161.1:n.*357A>T
ENST00000640234.1:c.364A>T
ENST00000640385.1:c.494A>T ENSP00000491193.1:p.Asp165Val
ENST00000640601.1:c.1A>T
ENST00000640851.1:c.494A>T ENSP00000492577.1:p.Asp165Val
ENST00000275532.7:c.494A>T ENSP00000275532.3:p.Asp165Val
ENST00000443322.1:c.494A>T ENSP00000411624.1:p.Asp165Val
ENST00000449064.5:c.324A>T ENSP00000388463.1:p.Arg108Ser
ENST00000503687.1:c.324A>T ENSP00000421074.1:p.Arg108Ser
NM_001167961.2:c.494A>T NP_001161433.1:p.Asp165Val
NM_153033.4:c.494A>T NP_694578.1:p.Asp165Val
NM_153033.5:c.494A>T MANE Select NP_694578.1:p.Asp165Val