Canonical Allele Identifier: CA367695426

Gene: KCTD7

Linked Data

• ClinVar Variation Id: 520584
• ClinVar RCV Id: RCV000623181 ; RCV001042252
• dbSNP Id: rs1554397774
• gnomAD v4: 7-66633273-A-G
• MyVariant Identifiers: chr7:g.66098260A>G (hg19) ; chr7:g.66633273A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66633273A>G , CM000669.2:g.66633273A>G	GRCh38
NC_000007.13:g.66098260A>G , CM000669.1:g.66098260A>G	GRCh37
NC_000007.12:g.65735695A>G	NCBI36
NG_028110.1:g.9393A>G
NG_028110.2:g.9393A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.145-2A>G	ENSP00000275532.4:n.145-2A>G
ENST00000449064.6:c.123-2A>G
ENST00000503687.2:c.144+4065A>G	ENSP00000421074.1:n.144+4065A>G
ENST00000638524.1:c.139+4065A>G
ENST00000638540.1:c.118+4065A>G
ENST00000639828.2:c.145-2A>G MANE Select	ENSP00000492240.1:n.145-2A>G
ENST00000639879.1:c.145-2A>G	ENSP00000492161.1:n.145-2A>G
ENST00000640234.1:c.15-2A>G
ENST00000640385.1:c.145-2A>G	ENSP00000491193.1:n.145-2A>G
ENST00000640851.1:c.145-2A>G	ENSP00000492577.1:n.145-2A>G
ENST00000275532.7:c.145-2A>G	ENSP00000275532.3:n.145-2A>G
ENST00000443322.1:c.145-2A>G	ENSP00000411624.1:n.145-2A>G
ENST00000449064.5:c.144+4065A>G	ENSP00000388463.1:n.144+4065A>G
ENST00000503687.1:c.144+4065A>G	ENSP00000421074.1:n.144+4065A>G
NM_001167961.2:c.145-2A>G	NP_001161433.1:n.145-2A>G
NM_153033.4:c.145-2A>G	NP_694578.1:n.145-2A>G
NM_153033.5:c.145-2A>G MANE Select	NP_694578.1:n.145-2A>G