Canonical Allele Identifier: CA160220262
Community Standard Title: NM_153033.5(KCTD7):c.807G>T (p.Lys269Asn)
Gene: KCTD7 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_153033.5:c.807G>T MANE Select NP_694578.1:p.Lys269Asn
ENST00000639828.2:c.807G>T MANE Select ENSP00000492240.1:p.Lys269Asn
NM_001167961.2:c.807G>T NP_001161433.1:p.Lys269Asn
NM_153033.4:c.807G>T NP_694578.1:p.Lys269Asn
ENST00000275532.7:c.807G>T ENSP00000275532.3:p.Lys269Asn
ENST00000275532.8:c.767G>T ENSP00000275532.4:p.Ser256Ile
ENST00000443322.1:c.807G>T ENSP00000411624.1:p.Lys269Asn
ENST00000449064.6:c.505+240G>T
ENST00000503687.1:c.397+240G>T ENSP00000421074.1:n.397+240G>T
ENST00000503687.2:c.397+240G>T ENSP00000421074.1:n.397+240G>T
ENST00000638524.1:c.632G>T
ENST00000638540.1:c.611G>T
ENST00000639879.1:c.*670G>T ENSP00000492161.1:n.*670G>T
ENST00000640234.1:c.437+240G>T
ENST00000640385.1:c.807G>T ENSP00000491193.1:p.Lys269Asn
ENST00000640601.1:c.314G>T
ENST00000640851.1:c.609G>T ENSP00000492577.1:p.Lys203Asn