Canonical Allele Identifier: CA367696604

Gene: KCTD7

Linked Data

• dbSNP Id: rs1168165054
• gnomAD v2: 7-66103853-G-A
• gnomAD v4: 7-66638866-G-A
• MyVariant Identifiers: chr7:g.66103853G>A (hg19) ; chr7:g.66638866G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66638866G>A , CM000669.2:g.66638866G>A	GRCh38
NC_000007.13:g.66103853G>A , CM000669.1:g.66103853G>A	GRCh37
NC_000007.12:g.65741288G>A	NCBI36
NG_028110.1:g.14986G>A
NG_028110.2:g.14986G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.464G>A	ENSP00000275532.4:p.Ser155Asn
ENST00000449064.6:c.442G>A
ENST00000503687.2:c.334G>A	ENSP00000421074.1:p.Ala112Thr
ENST00000638524.1:c.329G>A
ENST00000638540.1:c.308G>A
ENST00000639828.2:c.504G>A MANE Select	ENSP00000492240.1:p.Glu168=
ENST00000639879.1:c.*367G>A	ENSP00000492161.1:n.*367G>A
ENST00000640234.1:c.374G>A
ENST00000640385.1:c.504G>A	ENSP00000491193.1:p.Glu168=
ENST00000640601.1:c.11G>A
ENST00000640851.1:c.504G>A	ENSP00000492577.1:p.Glu168=
ENST00000275532.7:c.504G>A	ENSP00000275532.3:p.Glu168=
ENST00000443322.1:c.504G>A	ENSP00000411624.1:p.Glu168=
ENST00000449064.5:c.334G>A	ENSP00000388463.1:p.Ala112Thr
ENST00000503687.1:c.334G>A	ENSP00000421074.1:p.Ala112Thr
NM_001167961.2:c.504G>A	NP_001161433.1:p.Glu168=
NM_153033.4:c.504G>A	NP_694578.1:p.Glu168=
NM_153033.5:c.504G>A MANE Select	NP_694578.1:p.Glu168=