Canonical Allele Identifier: CA367695728

Gene: KCTD7

Linked Data

• dbSNP Id: rs1306316252
• gnomAD v2: 7-66098406-A-G
• gnomAD v4: 7-66633419-A-G
• MyVariant Identifiers: chr7:g.66098406A>G (hg19) ; chr7:g.66633419A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66633419A>G , CM000669.2:g.66633419A>G	GRCh38
NC_000007.13:g.66098406A>G , CM000669.1:g.66098406A>G	GRCh37
NC_000007.12:g.65735841A>G	NCBI36
NG_028110.1:g.9539A>G
NG_028110.2:g.9539A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000275532.8:c.289A>G	ENSP00000275532.4:p.Ile97Val
ENST00000449064.6:c.267A>G
ENST00000503687.2:c.144+4211A>G	ENSP00000421074.1:n.144+4211A>G
ENST00000638524.1:c.139+4211A>G
ENST00000638540.1:c.118+4211A>G
ENST00000639828.2:c.289A>G MANE Select	ENSP00000492240.1:p.Ile97Val
ENST00000639879.1:c.289A>G	ENSP00000492161.1:p.Ile97Val
ENST00000640234.1:c.159A>G
ENST00000640385.1:c.289A>G	ENSP00000491193.1:p.Ile97Val
ENST00000640851.1:c.289A>G	ENSP00000492577.1:p.Ile97Val
ENST00000275532.7:c.289A>G	ENSP00000275532.3:p.Ile97Val
ENST00000443322.1:c.289A>G	ENSP00000411624.1:p.Ile97Val
ENST00000449064.5:c.144+4211A>G	ENSP00000388463.1:n.144+4211A>G
ENST00000503687.1:c.144+4211A>G	ENSP00000421074.1:n.144+4211A>G
NM_001167961.2:c.289A>G	NP_001161433.1:p.Ile97Val
NM_153033.4:c.289A>G	NP_694578.1:p.Ile97Val
NM_153033.5:c.289A>G MANE Select	NP_694578.1:p.Ile97Val