Canonical Allele Identifier: CA1714178967
Community Standard Title: NM_153033.5(KCTD7):c.704G= (p.Trp235=)
Gene: KCTD7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66639066G= , CM000669.2:g.66639066G= GRCh38
NC_000007.13:g.66104053G= , CM000669.1:g.66104053G= GRCh37
NC_000007.12:g.65741488G= NCBI36
NG_028110.1:g.15186G=
NG_028110.2:g.15186G=

Transcript Alleles

HGVS Amino-acid Change
NM_153033.5:c.704G= MANE Select NP_694578.1:p.Trp235=
ENST00000639828.2:c.704G= MANE Select ENSP00000492240.1:p.Trp235=
NM_001167961.2:c.704G= NP_001161433.1:p.Trp235=
NM_153033.4:c.704G= NP_694578.1:p.Trp235=
ENST00000275532.7:c.704G= ENSP00000275532.3:p.Trp235=
ENST00000275532.8:c.664G= ENSP00000275532.4:p.Gly222=
ENST00000443322.1:c.704G= ENSP00000411624.1:p.Trp235=
ENST00000449064.6:c.505+137G=
ENST00000503687.1:c.397+137G= ENSP00000421074.1:n.397+137G=
ENST00000503687.2:c.397+137G= ENSP00000421074.1:n.397+137G=
ENST00000638524.1:c.529G=
ENST00000638540.1:c.508G=
ENST00000639879.1:c.*567G= ENSP00000492161.1:n.*567G=
ENST00000640234.1:c.437+137G=
ENST00000640385.1:c.704G= ENSP00000491193.1:p.Trp235=
ENST00000640601.1:c.211G=
ENST00000640851.1:c.568-62G= ENSP00000492577.1:n.568-62G=