Canonical Allele Identifier: CA160220195
Community Standard Title: NM_153033.5(KCTD7):c.315-4T>A
Gene: KCTD7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66638249T>A , CM000669.2:g.66638249T>A GRCh38
NC_000007.13:g.66103236T>A , CM000669.1:g.66103236T>A GRCh37
NC_000007.12:g.65740671T>A NCBI36
NG_028110.1:g.14369T>A
NG_028110.2:g.14369T>A

Transcript Alleles

HGVS Amino-acid Change
NM_153033.5:c.315-4T>A MANE Select NP_694578.1:n.315-4T>A
ENST00000639828.2:c.315-4T>A MANE Select ENSP00000492240.1:n.315-4T>A
NM_001167961.2:c.315-4T>A NP_001161433.1:n.315-4T>A
NM_153033.4:c.315-4T>A NP_694578.1:n.315-4T>A
ENST00000275532.7:c.315-4T>A ENSP00000275532.3:n.315-4T>A
ENST00000275532.8:c.315-4T>A ENSP00000275532.4:n.315-4T>A
ENST00000443322.1:c.315-4T>A ENSP00000411624.1:n.315-4T>A
ENST00000449064.5:c.145-4T>A ENSP00000388463.1:n.145-4T>A
ENST00000449064.6:c.293-4T>A
ENST00000503687.1:c.145-4T>A ENSP00000421074.1:n.145-4T>A
ENST00000503687.2:c.145-4T>A ENSP00000421074.1:n.145-4T>A
ENST00000638524.1:c.140-4T>A
ENST00000638540.1:c.119-4T>A
ENST00000639879.1:c.315-4T>A ENSP00000492161.1:n.315-4T>A
ENST00000640234.1:c.185-4T>A
ENST00000640385.1:c.315-4T>A ENSP00000491193.1:n.315-4T>A
ENST00000640851.1:c.315-4T>A ENSP00000492577.1:n.315-4T>A