Canonical Allele Identifier: CA367696222

Gene: KCTD7

Linked Data

• ClinVar Variation Id: 938692
• ClinVar RCV Id: RCV001207965 ; RCV001773465
• dbSNP Id: rs1786632902
• MyVariant Identifiers: chr7:g.66103296C>G (hg19) ; chr7:g.66638309C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66638309C>G , CM000669.2:g.66638309C>G	GRCh38
NC_000007.13:g.66103296C>G , CM000669.1:g.66103296C>G	GRCh37
NC_000007.12:g.65740731C>G	NCBI36
NG_028110.1:g.14429C>G
NG_028110.2:g.14429C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.371C>G	ENSP00000275532.4:p.Ala124Gly
ENST00000449064.6:c.349C>G
ENST00000503687.2:c.201C>G	ENSP00000421074.1:p.Ser67Arg
ENST00000638524.1:c.196C>G
ENST00000638540.1:c.175C>G
ENST00000639828.2:c.371C>G MANE Select	ENSP00000492240.1:p.Ala124Gly
ENST00000639879.1:c.371C>G	ENSP00000492161.1:p.Ala124Gly
ENST00000640234.1:c.241C>G
ENST00000640385.1:c.371C>G	ENSP00000491193.1:p.Ala124Gly
ENST00000640851.1:c.371C>G	ENSP00000492577.1:p.Ala124Gly
ENST00000275532.7:c.371C>G	ENSP00000275532.3:p.Ala124Gly
ENST00000443322.1:c.371C>G	ENSP00000411624.1:p.Ala124Gly
ENST00000449064.5:c.201C>G	ENSP00000388463.1:p.Ser67Arg
ENST00000503687.1:c.201C>G	ENSP00000421074.1:p.Ser67Arg
NM_001167961.2:c.371C>G	NP_001161433.1:p.Ala124Gly
NM_153033.4:c.371C>G	NP_694578.1:p.Ala124Gly
NM_153033.5:c.371C>G MANE Select	NP_694578.1:p.Ala124Gly