Canonical Allele Identifier: CA367697635
Community Standard Title: NM_153033.5(KCTD7):c.807G>C (p.Lys269Asn)
Gene: KCTD7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66639169G>C , CM000669.2:g.66639169G>C GRCh38
NC_000007.13:g.66104156G>C , CM000669.1:g.66104156G>C GRCh37
NC_000007.12:g.65741591G>C NCBI36
NG_028110.1:g.15289G>C
NG_028110.2:g.15289G>C

Transcript Alleles

HGVS Amino-acid Change
NM_153033.5:c.807G>C MANE Select NP_694578.1:p.Lys269Asn
ENST00000639828.2:c.807G>C MANE Select ENSP00000492240.1:p.Lys269Asn
NM_001167961.2:c.807G>C NP_001161433.1:p.Lys269Asn
NM_153033.4:c.807G>C NP_694578.1:p.Lys269Asn
ENST00000275532.7:c.807G>C ENSP00000275532.3:p.Lys269Asn
ENST00000275532.8:c.767G>C ENSP00000275532.4:p.Ser256Thr
ENST00000443322.1:c.807G>C ENSP00000411624.1:p.Lys269Asn
ENST00000449064.6:c.505+240G>C
ENST00000503687.1:c.397+240G>C ENSP00000421074.1:n.397+240G>C
ENST00000503687.2:c.397+240G>C ENSP00000421074.1:n.397+240G>C
ENST00000638524.1:c.632G>C
ENST00000638540.1:c.611G>C
ENST00000639879.1:c.*670G>C ENSP00000492161.1:n.*670G>C
ENST00000640234.1:c.437+240G>C
ENST00000640385.1:c.807G>C ENSP00000491193.1:p.Lys269Asn
ENST00000640601.1:c.314G>C
ENST00000640851.1:c.609G>C ENSP00000492577.1:p.Lys203Asn