Canonical Allele Identifier: CA4278281

Gene: KCTD7

Linked Data

• ClinVar Variation Id: 423509
• ClinVar RCV Id: RCV000486597 ; RCV000645673 ; RCV000766327
• dbSNP Id: rs745917176
• ExAC: 7:66103855 G / A
• gnomAD v2: 7-66103855-G-A
• gnomAD v3: 7-66638868-G-A
• gnomAD v4: 7-66638868-G-A
• MyVariant Identifiers: chr7:g.66103855G>A (hg19) ; chr7:g.66638868G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66638868G>A , CM000669.2:g.66638868G>A	GRCh38
NC_000007.13:g.66103855G>A , CM000669.1:g.66103855G>A	GRCh37
NC_000007.12:g.65741290G>A	NCBI36
NG_028110.1:g.14988G>A
NG_028110.2:g.14988G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000275532.8:c.466G>A	ENSP00000275532.4:p.Gly156Arg
ENST00000449064.6:c.444G>A
ENST00000503687.2:c.336G>A	ENSP00000421074.1:p.Ala112=
ENST00000638524.1:c.331G>A
ENST00000638540.1:c.310G>A
ENST00000639828.2:c.506G>A MANE Select	ENSP00000492240.1:p.Arg169Gln
ENST00000639879.1:c.*369G>A	ENSP00000492161.1:n.*369G>A
ENST00000640234.1:c.376G>A
ENST00000640385.1:c.506G>A	ENSP00000491193.1:p.Arg169Gln
ENST00000640601.1:c.13G>A
ENST00000640851.1:c.506G>A	ENSP00000492577.1:p.Arg169Gln
ENST00000275532.7:c.506G>A	ENSP00000275532.3:p.Arg169Gln
ENST00000443322.1:c.506G>A	ENSP00000411624.1:p.Arg169Gln
ENST00000449064.5:c.336G>A	ENSP00000388463.1:p.Ala112=
ENST00000503687.1:c.336G>A	ENSP00000421074.1:p.Ala112=
NM_001167961.2:c.506G>A	NP_001161433.1:p.Arg169Gln
NM_153033.4:c.506G>A	NP_694578.1:p.Arg169Gln
NM_153033.5:c.506G>A MANE Select	NP_694578.1:p.Arg169Gln