Canonical Allele Identifier: CA367695607

Gene: KCTD7

Linked Data

• MyVariant Identifiers: chr7:g.66098348G>C (hg19) ; chr7:g.66633361G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66633361G>C , CM000669.2:g.66633361G>C	GRCh38
NC_000007.13:g.66098348G>C , CM000669.1:g.66098348G>C	GRCh37
NC_000007.12:g.65735783G>C	NCBI36
NG_028110.1:g.9481G>C
NG_028110.2:g.9481G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.231G>C	ENSP00000275532.4:p.Leu77Phe
ENST00000449064.6:c.209G>C
ENST00000503687.2:c.144+4153G>C	ENSP00000421074.1:n.144+4153G>C
ENST00000638524.1:c.139+4153G>C
ENST00000638540.1:c.118+4153G>C
ENST00000639828.2:c.231G>C MANE Select	ENSP00000492240.1:p.Leu77Phe
ENST00000639879.1:c.231G>C	ENSP00000492161.1:p.Leu77Phe
ENST00000640234.1:c.101G>C
ENST00000640385.1:c.231G>C	ENSP00000491193.1:p.Leu77Phe
ENST00000640851.1:c.231G>C	ENSP00000492577.1:p.Leu77Phe
ENST00000275532.7:c.231G>C	ENSP00000275532.3:p.Leu77Phe
ENST00000443322.1:c.231G>C	ENSP00000411624.1:p.Leu77Phe
ENST00000449064.5:c.144+4153G>C	ENSP00000388463.1:n.144+4153G>C
ENST00000503687.1:c.144+4153G>C	ENSP00000421074.1:n.144+4153G>C
NM_001167961.2:c.231G>C	NP_001161433.1:p.Leu77Phe
NM_153033.4:c.231G>C	NP_694578.1:p.Leu77Phe
NM_153033.5:c.231G>C MANE Select	NP_694578.1:p.Leu77Phe