Canonical Allele Identifier: CA367696917

Gene: KCTD7

Linked Data

• MyVariant Identifiers: chr7:g.66103945T>A (hg19) ; chr7:g.66638958T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66638958T>A , CM000669.2:g.66638958T>A	GRCh38
NC_000007.13:g.66103945T>A , CM000669.1:g.66103945T>A	GRCh37
NC_000007.12:g.65741380T>A	NCBI36
NG_028110.1:g.15078T>A
NG_028110.2:g.15078T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.556T>A	ENSP00000275532.4:p.Ser186Thr
ENST00000449064.6:c.505+29T>A
ENST00000503687.2:c.397+29T>A	ENSP00000421074.1:n.397+29T>A
ENST00000638524.1:c.421T>A
ENST00000638540.1:c.400T>A
ENST00000639828.2:c.596T>A MANE Select	ENSP00000492240.1:p.Ile199Asn
ENST00000639879.1:c.*459T>A	ENSP00000492161.1:n.*459T>A
ENST00000640234.1:c.437+29T>A
ENST00000640385.1:c.596T>A	ENSP00000491193.1:p.Ile199Asn
ENST00000640601.1:c.103T>A
ENST00000640851.1:c.567+29T>A	ENSP00000492577.1:n.567+29T>A
ENST00000275532.7:c.596T>A	ENSP00000275532.3:p.Ile199Asn
ENST00000443322.1:c.596T>A	ENSP00000411624.1:p.Ile199Asn
ENST00000503687.1:c.397+29T>A	ENSP00000421074.1:n.397+29T>A
NM_001167961.2:c.596T>A	NP_001161433.1:p.Ile199Asn
NM_153033.4:c.596T>A	NP_694578.1:p.Ile199Asn
NM_153033.5:c.596T>A MANE Select	NP_694578.1:p.Ile199Asn