Canonical Allele Identifier: CA10626338

Gene: KCTD7

Linked Data

• ClinVar Variation Id: 360602
• ClinVar RCV Id: RCV000269282
• dbSNP Id: rs886062418
• gnomAD v2: 7-66105342-A-G
• gnomAD v3: 7-66640355-A-G
• gnomAD v4: 7-66640355-A-G
• MyVariant Identifiers: chr7:g.66105342A>G (hg19) ; chr7:g.66640355A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66640355A>G , CM000669.2:g.66640355A>G	GRCh38
NC_000007.13:g.66105342A>G , CM000669.1:g.66105342A>G	GRCh37
NC_000007.12:g.65742777A>G	NCBI36
NG_028110.1:g.16475A>G
NG_028110.2:g.16475A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.*1176A>G	ENSP00000275532.4:n.*1176A>G
ENST00000503687.2:c.397+1426A>G	ENSP00000421074.1:n.397+1426A>G
ENST00000638524.1:c.1086A>G
ENST00000638540.1:c.1797A>G
ENST00000639828.2:c.*1123A>G MANE Select	ENSP00000492240.1:n.*1123A>G
ENST00000639879.1:c.*1856A>G	ENSP00000492161.1:n.*1856A>G
ENST00000640234.1:c.437+1426A>G
ENST00000640385.1:c.*346A>G	ENSP00000491193.1:n.*346A>G
ENST00000640601.1:c.373+1127A>G
ENST00000640851.1:c.*346A>G	ENSP00000492577.1:n.*346A>G
ENST00000275532.7:c.*1123A>G	ENSP00000275532.3:n.*1123A>G
ENST00000443322.1:c.867-39A>G	ENSP00000411624.1:n.867-39A>G
ENST00000503687.1:c.397+1426A>G	ENSP00000421074.1:n.397+1426A>G
NM_001167961.2:c.867-39A>G	NP_001161433.1:n.867-39A>G
NM_153033.4:c.*1123A>G	NP_694578.1:n.*1123A>G
NM_153033.5:c.*1123A>G MANE Select	NP_694578.1:n.*1123A>G