Canonical Allele Identifier: CA4278244

Gene: KCTD7

Linked Data

• ClinVar Variation Id: 360586
• ClinVar RCV Id: RCV000378037 ; RCV000840701
• dbSNP Id: rs753658170
• ExAC: 7:66103294 A / C
• gnomAD v2: 7-66103294-A-C
• gnomAD v3: 7-66638307-A-C
• gnomAD v4: 7-66638307-A-C
• MyVariant Identifiers: chr7:g.66103294A>C (hg19) ; chr7:g.66638307A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66638307A>C , CM000669.2:g.66638307A>C	GRCh38
NC_000007.13:g.66103294A>C , CM000669.1:g.66103294A>C	GRCh37
NC_000007.12:g.65740729A>C	NCBI36
NG_028110.1:g.14427A>C
NG_028110.2:g.14427A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.369A>C	ENSP00000275532.4:p.Arg123=
ENST00000449064.6:c.347A>C
ENST00000503687.2:c.199A>C	ENSP00000421074.1:p.Ser67Arg
ENST00000638524.1:c.194A>C
ENST00000638540.1:c.173A>C
ENST00000639828.2:c.369A>C MANE Select	ENSP00000492240.1:p.Arg123=
ENST00000639879.1:c.369A>C	ENSP00000492161.1:p.Arg123=
ENST00000640234.1:c.239A>C
ENST00000640385.1:c.369A>C	ENSP00000491193.1:p.Arg123=
ENST00000640851.1:c.369A>C	ENSP00000492577.1:p.Arg123=
ENST00000275532.7:c.369A>C	ENSP00000275532.3:p.Arg123=
ENST00000443322.1:c.369A>C	ENSP00000411624.1:p.Arg123=
ENST00000449064.5:c.199A>C	ENSP00000388463.1:p.Ser67Arg
ENST00000503687.1:c.199A>C	ENSP00000421074.1:p.Ser67Arg
NM_001167961.2:c.369A>C	NP_001161433.1:p.Arg123=
NM_153033.4:c.369A>C	NP_694578.1:p.Arg123=
NM_153033.5:c.369A>C MANE Select	NP_694578.1:p.Arg123=