Canonical Allele Identifier: CA4278208
Gene: KCTD7 HGNC NCBI

Linked Data

dbSNP Id: rs751140440
gnomAD v2: 7-66098361-A-G
gnomAD v4: 7-66633374-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.66633374A>G , CM000669.2:g.66633374A>G GRCh38
NC_000007.13:g.66098361A>G , CM000669.1:g.66098361A>G GRCh37
NC_000007.12:g.65735796A>G NCBI36
NG_028110.1:g.9494A>G
NG_028110.2:g.9494A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000275532.8:c.244A>G ENSP00000275532.4:p.Ser82Gly
ENST00000449064.6:c.222A>G
ENST00000503687.2:c.144+4166A>G ENSP00000421074.1:n.144+4166A>G
ENST00000638524.1:c.139+4166A>G
ENST00000638540.1:c.118+4166A>G
ENST00000639828.2:c.244A>G MANE Select ENSP00000492240.1:p.Ser82Gly
ENST00000639879.1:c.244A>G ENSP00000492161.1:p.Ser82Gly
ENST00000640234.1:c.114A>G
ENST00000640385.1:c.244A>G ENSP00000491193.1:p.Ser82Gly
ENST00000640851.1:c.244A>G ENSP00000492577.1:p.Ser82Gly
ENST00000275532.7:c.244A>G ENSP00000275532.3:p.Ser82Gly
ENST00000443322.1:c.244A>G ENSP00000411624.1:p.Ser82Gly
ENST00000449064.5:c.144+4166A>G ENSP00000388463.1:n.144+4166A>G
ENST00000503687.1:c.144+4166A>G ENSP00000421074.1:n.144+4166A>G
NM_001167961.2:c.244A>G NP_001161433.1:p.Ser82Gly
NM_153033.4:c.244A>G NP_694578.1:p.Ser82Gly
NM_153033.5:c.244A>G MANE Select NP_694578.1:p.Ser82Gly