Canonical Allele Identifier: CA241849

Gene: KCTD7

Linked Data

• ClinVar Variation Id: 195417
• ClinVar RCV Id: RCV000624660 ; RCV000645671 ; RCV000712134 ; RCV001797663
• dbSNP Id: rs201296399
• ExAC: 7:66098307 A / G
• gnomAD v2: 7-66098307-A-G
• gnomAD v3: 7-66633320-A-G
• gnomAD v4: 7-66633320-A-G
• MyVariant Identifiers: chr7:g.66098307A>G (hg19) ; chr7:g.66633320A>G (hg38)
• PubMed: PMID:15778103 ; PMID:17455289 ; PMID:19084560 ; PMID:21710140 ; PMID:22606975 ; PMID:22638565 ; PMID:22693283 ; PMID:22748208 ; PMID:25060828 ; PMID:27742667

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66633320A>G , CM000669.2:g.66633320A>G	GRCh38
NC_000007.13:g.66098307A>G , CM000669.1:g.66098307A>G	GRCh37
NC_000007.12:g.65735742A>G	NCBI36
NG_028110.1:g.9440A>G
NG_028110.2:g.9440A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.190A>G	ENSP00000275532.4:p.Thr64Ala
ENST00000449064.6:c.168A>G
ENST00000503687.2:c.144+4112A>G	ENSP00000421074.1:n.144+4112A>G
ENST00000638524.1:c.139+4112A>G
ENST00000638540.1:c.118+4112A>G
ENST00000639828.2:c.190A>G MANE Select	ENSP00000492240.1:p.Thr64Ala
ENST00000639879.1:c.190A>G	ENSP00000492161.1:p.Thr64Ala
ENST00000640234.1:c.60A>G
ENST00000640385.1:c.190A>G	ENSP00000491193.1:p.Thr64Ala
ENST00000640851.1:c.190A>G	ENSP00000492577.1:p.Thr64Ala
ENST00000275532.7:c.190A>G	ENSP00000275532.3:p.Thr64Ala
ENST00000443322.1:c.190A>G	ENSP00000411624.1:p.Thr64Ala
ENST00000449064.5:c.144+4112A>G	ENSP00000388463.1:n.144+4112A>G
ENST00000503687.1:c.144+4112A>G	ENSP00000421074.1:n.144+4112A>G
NM_001167961.2:c.190A>G	NP_001161433.1:p.Thr64Ala
NM_153033.4:c.190A>G	NP_694578.1:p.Thr64Ala
NM_153033.5:c.190A>G MANE Select	NP_694578.1:p.Thr64Ala