Canonical Allele Identifier: CA1714174559
Gene: KCTD7 HGNC NCBI

Linked Data

dbSNP Id: rs1786504690
gnomAD v4: 7-66633496-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66633496T>C , CM000669.2:g.66633496T>C GRCh38
NC_000007.13:g.66098483T>C , CM000669.1:g.66098483T>C GRCh37
NC_000007.12:g.65735918T>C NCBI36
NG_028110.1:g.9616T>C
NG_028110.2:g.9616T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000275532.8:c.314+52T>C ENSP00000275532.4:n.314+52T>C
ENST00000449064.6:c.292+52T>C
ENST00000503687.2:c.144+4288T>C ENSP00000421074.1:n.144+4288T>C
ENST00000638524.1:c.139+4288T>C
ENST00000638540.1:c.118+4288T>C
ENST00000639828.2:c.314+52T>C MANE Select ENSP00000492240.1:n.314+52T>C
ENST00000639879.1:c.314+52T>C ENSP00000492161.1:n.314+52T>C
ENST00000640234.1:c.184+52T>C
ENST00000640385.1:c.314+52T>C ENSP00000491193.1:n.314+52T>C
ENST00000640851.1:c.314+52T>C ENSP00000492577.1:n.314+52T>C
ENST00000275532.7:c.314+52T>C ENSP00000275532.3:n.314+52T>C
ENST00000443322.1:c.314+52T>C ENSP00000411624.1:n.314+52T>C
ENST00000449064.5:c.144+4288T>C ENSP00000388463.1:n.144+4288T>C
ENST00000503687.1:c.144+4288T>C ENSP00000421074.1:n.144+4288T>C
NM_001167961.2:c.314+52T>C NP_001161433.1:n.314+52T>C
NM_153033.4:c.314+52T>C NP_694578.1:n.314+52T>C
NM_153033.5:c.314+52T>C MANE Select NP_694578.1:n.314+52T>C