Canonical Allele Identifier: CA130028
Gene: KCTD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 37010
ClinVar RCV Id: RCV000030687
dbSNP Id: rs387907260
gnomAD v2: 7-66098397-C-T
gnomAD v3: 7-66633410-C-T
gnomAD v4: 7-66633410-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66633410C>T , CM000669.2:g.66633410C>T GRCh38
NC_000007.13:g.66098397C>T , CM000669.1:g.66098397C>T GRCh37
NC_000007.12:g.65735832C>T NCBI36
NG_028110.1:g.9530C>T
NG_028110.2:g.9530C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000275532.8:c.280C>T ENSP00000275532.4:p.Arg94Trp
ENST00000449064.6:c.258C>T
ENST00000503687.2:c.144+4202C>T ENSP00000421074.1:n.144+4202C>T
ENST00000638524.1:c.139+4202C>T
ENST00000638540.1:c.118+4202C>T
ENST00000639828.2:c.280C>T MANE Select ENSP00000492240.1:p.Arg94Trp
ENST00000639879.1:c.280C>T ENSP00000492161.1:p.Arg94Trp
ENST00000640234.1:c.150C>T
ENST00000640385.1:c.280C>T ENSP00000491193.1:p.Arg94Trp
ENST00000640851.1:c.280C>T ENSP00000492577.1:p.Arg94Trp
ENST00000275532.7:c.280C>T ENSP00000275532.3:p.Arg94Trp
ENST00000443322.1:c.280C>T ENSP00000411624.1:p.Arg94Trp
ENST00000449064.5:c.144+4202C>T ENSP00000388463.1:n.144+4202C>T
ENST00000503687.1:c.144+4202C>T ENSP00000421074.1:n.144+4202C>T
NM_001167961.2:c.280C>T NP_001161433.1:p.Arg94Trp
NM_153033.4:c.280C>T NP_694578.1:p.Arg94Trp
NM_153033.5:c.280C>T MANE Select NP_694578.1:p.Arg94Trp