Canonical Allele Identifier: CA245487

Gene: KCTD7

Linked Data

• ClinVar Variation Id: 197381
• ClinVar RCV Id: RCV000178394 ; RCV001852214
• dbSNP Id: rs200415747
• ExAC: 7:66104142 G / A
• gnomAD v2: 7-66104142-G-A
• gnomAD v4: 7-66639155-G-A
• MyVariant Identifiers: chr7:g.66104142G>A (hg19) ; chr7:g.66639155G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66639155G>A , CM000669.2:g.66639155G>A	GRCh38
NC_000007.13:g.66104142G>A , CM000669.1:g.66104142G>A	GRCh37
NC_000007.12:g.65741577G>A	NCBI36
NG_028110.1:g.15275G>A
NG_028110.2:g.15275G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.753G>A	ENSP00000275532.4:p.Ser251=
ENST00000449064.6:c.505+226G>A
ENST00000503687.2:c.397+226G>A	ENSP00000421074.1:n.397+226G>A
ENST00000638524.1:c.618G>A
ENST00000638540.1:c.597G>A
ENST00000639828.2:c.793G>A MANE Select	ENSP00000492240.1:p.Gly265Arg
ENST00000639879.1:c.*656G>A	ENSP00000492161.1:n.*656G>A
ENST00000640234.1:c.437+226G>A
ENST00000640385.1:c.793G>A	ENSP00000491193.1:p.Gly265Arg
ENST00000640601.1:c.300G>A
ENST00000640851.1:c.595G>A	ENSP00000492577.1:p.Gly199Arg
ENST00000275532.7:c.793G>A	ENSP00000275532.3:p.Gly265Arg
ENST00000443322.1:c.793G>A	ENSP00000411624.1:p.Gly265Arg
ENST00000503687.1:c.397+226G>A	ENSP00000421074.1:n.397+226G>A
NM_001167961.2:c.793G>A	NP_001161433.1:p.Gly265Arg
NM_153033.4:c.793G>A	NP_694578.1:p.Gly265Arg
NM_153033.5:c.793G>A MANE Select	NP_694578.1:p.Gly265Arg