Canonical Allele Identifier: CA367695788

Gene: KCTD7

Linked Data

• ClinVar Variation Id: 536951
• ClinVar RCV Id: RCV000645674
• dbSNP Id: rs1554397834
• gnomAD v4: 7-66633445-G-A
• MyVariant Identifiers: chr7:g.66098432G>A (hg19) ; chr7:g.66633445G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66633445G>A , CM000669.2:g.66633445G>A	GRCh38
NC_000007.13:g.66098432G>A , CM000669.1:g.66098432G>A	GRCh37
NC_000007.12:g.65735867G>A	NCBI36
NG_028110.1:g.9565G>A
NG_028110.2:g.9565G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.314+1G>A	ENSP00000275532.4:n.314+1G>A
ENST00000449064.6:c.292+1G>A
ENST00000503687.2:c.144+4237G>A	ENSP00000421074.1:n.144+4237G>A
ENST00000638524.1:c.139+4237G>A
ENST00000638540.1:c.118+4237G>A
ENST00000639828.2:c.314+1G>A MANE Select	ENSP00000492240.1:n.314+1G>A
ENST00000639879.1:c.314+1G>A	ENSP00000492161.1:n.314+1G>A
ENST00000640234.1:c.184+1G>A
ENST00000640385.1:c.314+1G>A	ENSP00000491193.1:n.314+1G>A
ENST00000640851.1:c.314+1G>A	ENSP00000492577.1:n.314+1G>A
ENST00000275532.7:c.314+1G>A	ENSP00000275532.3:n.314+1G>A
ENST00000443322.1:c.314+1G>A	ENSP00000411624.1:n.314+1G>A
ENST00000449064.5:c.144+4237G>A	ENSP00000388463.1:n.144+4237G>A
ENST00000503687.1:c.144+4237G>A	ENSP00000421074.1:n.144+4237G>A
NM_001167961.2:c.314+1G>A	NP_001161433.1:n.314+1G>A
NM_153033.4:c.314+1G>A	NP_694578.1:n.314+1G>A
NM_153033.5:c.314+1G>A MANE Select	NP_694578.1:n.314+1G>A