Canonical Allele Identifier: CA367696946

Gene: KCTD7

Linked Data

• ClinVar Variation Id: 1494975
• ClinVar RCV Id: RCV001989688
• dbSNP Id: rs1786649598
• MyVariant Identifiers: chr7:g.66103954A>G (hg19) ; chr7:g.66638967A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66638967A>G , CM000669.2:g.66638967A>G	GRCh38
NC_000007.13:g.66103954A>G , CM000669.1:g.66103954A>G	GRCh37
NC_000007.12:g.65741389A>G	NCBI36
NG_028110.1:g.15087A>G
NG_028110.2:g.15087A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.565A>G	ENSP00000275532.4:p.Met189Val
ENST00000449064.6:c.505+38A>G
ENST00000503687.2:c.397+38A>G	ENSP00000421074.1:n.397+38A>G
ENST00000638524.1:c.430A>G
ENST00000638540.1:c.409A>G
ENST00000639828.2:c.605A>G MANE Select	ENSP00000492240.1:p.Tyr202Cys
ENST00000639879.1:c.*468A>G	ENSP00000492161.1:n.*468A>G
ENST00000640234.1:c.437+38A>G
ENST00000640385.1:c.605A>G	ENSP00000491193.1:p.Tyr202Cys
ENST00000640601.1:c.112A>G
ENST00000640851.1:c.567+38A>G	ENSP00000492577.1:n.567+38A>G
ENST00000275532.7:c.605A>G	ENSP00000275532.3:p.Tyr202Cys
ENST00000443322.1:c.605A>G	ENSP00000411624.1:p.Tyr202Cys
ENST00000503687.1:c.397+38A>G	ENSP00000421074.1:n.397+38A>G
NM_001167961.2:c.605A>G	NP_001161433.1:p.Tyr202Cys
NM_153033.4:c.605A>G	NP_694578.1:p.Tyr202Cys
NM_153033.5:c.605A>G MANE Select	NP_694578.1:p.Tyr202Cys