Canonical Allele Identifier: CA367696952

Gene: KCTD7

Linked Data

• MyVariant Identifiers: chr7:g.66103956G>A (hg19) ; chr7:g.66638969G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66638969G>A , CM000669.2:g.66638969G>A	GRCh38
NC_000007.13:g.66103956G>A , CM000669.1:g.66103956G>A	GRCh37
NC_000007.12:g.65741391G>A	NCBI36
NG_028110.1:g.15089G>A
NG_028110.2:g.15089G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.567G>A	ENSP00000275532.4:p.Met189Ile
ENST00000449064.6:c.505+40G>A
ENST00000503687.2:c.397+40G>A	ENSP00000421074.1:n.397+40G>A
ENST00000638524.1:c.432G>A
ENST00000638540.1:c.411G>A
ENST00000639828.2:c.607G>A MANE Select	ENSP00000492240.1:p.Glu203Lys
ENST00000639879.1:c.*470G>A	ENSP00000492161.1:n.*470G>A
ENST00000640234.1:c.437+40G>A
ENST00000640385.1:c.607G>A	ENSP00000491193.1:p.Glu203Lys
ENST00000640601.1:c.114G>A
ENST00000640851.1:c.567+40G>A	ENSP00000492577.1:n.567+40G>A
ENST00000275532.7:c.607G>A	ENSP00000275532.3:p.Glu203Lys
ENST00000443322.1:c.607G>A	ENSP00000411624.1:p.Glu203Lys
ENST00000503687.1:c.397+40G>A	ENSP00000421074.1:n.397+40G>A
NM_001167961.2:c.607G>A	NP_001161433.1:p.Glu203Lys
NM_153033.4:c.607G>A	NP_694578.1:p.Glu203Lys
NM_153033.5:c.607G>A MANE Select	NP_694578.1:p.Glu203Lys