Canonical Allele Identifier: CA4278167
Community Standard Title: NM_153033.5(KCTD7):c.128C>T (p.Pro43Leu)
Gene: KCTD7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66629192C>T , CM000669.2:g.66629192C>T GRCh38
NC_000007.13:g.66094179C>T , CM000669.1:g.66094179C>T GRCh37
NC_000007.12:g.65731614C>T NCBI36
NG_028110.1:g.5312C>T
NG_028110.2:g.5312C>T

Transcript Alleles

HGVS Amino-acid Change
NM_153033.5:c.128C>T MANE Select NP_694578.1:p.Pro43Leu
ENST00000639828.2:c.128C>T MANE Select ENSP00000492240.1:p.Pro43Leu
NM_001167961.2:c.128C>T NP_001161433.1:p.Pro43Leu
NM_153033.4:c.128C>T NP_694578.1:p.Pro43Leu
ENST00000275532.7:c.128C>T ENSP00000275532.3:p.Pro43Leu
ENST00000275532.8:c.128C>T ENSP00000275532.4:p.Pro43Leu
ENST00000443322.1:c.128C>T ENSP00000411624.1:p.Pro43Leu
ENST00000449064.5:c.128C>T ENSP00000388463.1:p.Pro43Leu
ENST00000449064.6:c.106C>T
ENST00000503687.1:c.128C>T ENSP00000421074.1:p.Pro43Leu
ENST00000503687.2:c.128C>T ENSP00000421074.1:p.Pro43Leu
ENST00000638524.1:c.123C>T
ENST00000638540.1:c.102C>T
ENST00000639879.1:c.128C>T ENSP00000492161.1:p.Pro43Leu
ENST00000640385.1:c.128C>T ENSP00000491193.1:p.Pro43Leu
ENST00000640851.1:c.128C>T ENSP00000492577.1:p.Pro43Leu