Canonical Allele Identifier: CA1102440632
Gene: KCTD7 HGNC NCBI

Linked Data

gnomAD v3: 7-66633634-G-T
gnomAD v4: 7-66633634-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66633634G>T , CM000669.2:g.66633634G>T GRCh38
NC_000007.13:g.66098621G>T , CM000669.1:g.66098621G>T GRCh37
NC_000007.12:g.65736056G>T NCBI36
NG_028110.1:g.9754G>T
NG_028110.2:g.9754G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000275532.8:c.314+190G>T ENSP00000275532.4:n.314+190G>T
ENST00000449064.6:c.292+190G>T
ENST00000503687.2:c.144+4426G>T ENSP00000421074.1:n.144+4426G>T
ENST00000638524.1:c.139+4426G>T
ENST00000638540.1:c.118+4426G>T
ENST00000639828.2:c.314+190G>T MANE Select ENSP00000492240.1:n.314+190G>T
ENST00000639879.1:c.314+190G>T ENSP00000492161.1:n.314+190G>T
ENST00000640234.1:c.184+190G>T
ENST00000640385.1:c.314+190G>T ENSP00000491193.1:n.314+190G>T
ENST00000640851.1:c.314+190G>T ENSP00000492577.1:n.314+190G>T
ENST00000275532.7:c.314+190G>T ENSP00000275532.3:n.314+190G>T
ENST00000443322.1:c.314+190G>T ENSP00000411624.1:n.314+190G>T
ENST00000449064.5:c.144+4426G>T ENSP00000388463.1:n.144+4426G>T
ENST00000503687.1:c.144+4426G>T ENSP00000421074.1:n.144+4426G>T
NM_001167961.2:c.314+190G>T NP_001161433.1:n.314+190G>T
NM_153033.4:c.314+190G>T NP_694578.1:n.314+190G>T
NM_153033.5:c.314+190G>T MANE Select NP_694578.1:n.314+190G>T