Canonical Allele Identifier: CA315687

Gene: KCTD7

Linked Data

• ClinVar Variation Id: 206012
• ClinVar RCV Id: RCV000533139 ; RCV002426906 ; RCV001705019
• dbSNP Id: rs149255570
• ExAC: 7:66098373 T / C
• gnomAD v2: 7-66098373-T-C
• gnomAD v3: 7-66633386-T-C
• gnomAD v4: 7-66633386-T-C
• MyVariant Identifiers: chr7:g.66098373T>C (hg19) ; chr7:g.66633386T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66633386T>C , CM000669.2:g.66633386T>C	GRCh38
NC_000007.13:g.66098373T>C , CM000669.1:g.66098373T>C	GRCh37
NC_000007.12:g.65735808T>C	NCBI36
NG_028110.1:g.9506T>C
NG_028110.2:g.9506T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.256T>C	ENSP00000275532.4:p.Tyr86His
ENST00000449064.6:c.234T>C
ENST00000503687.2:c.144+4178T>C	ENSP00000421074.1:n.144+4178T>C
ENST00000638524.1:c.139+4178T>C
ENST00000638540.1:c.118+4178T>C
ENST00000639828.2:c.256T>C MANE Select	ENSP00000492240.1:p.Tyr86His
ENST00000639879.1:c.256T>C	ENSP00000492161.1:p.Tyr86His
ENST00000640234.1:c.126T>C
ENST00000640385.1:c.256T>C	ENSP00000491193.1:p.Tyr86His
ENST00000640851.1:c.256T>C	ENSP00000492577.1:p.Tyr86His
ENST00000275532.7:c.256T>C	ENSP00000275532.3:p.Tyr86His
ENST00000443322.1:c.256T>C	ENSP00000411624.1:p.Tyr86His
ENST00000449064.5:c.144+4178T>C	ENSP00000388463.1:n.144+4178T>C
ENST00000503687.1:c.144+4178T>C	ENSP00000421074.1:n.144+4178T>C
NM_001167961.2:c.256T>C	NP_001161433.1:p.Tyr86His
NM_153033.4:c.256T>C	NP_694578.1:p.Tyr86His
NM_153033.5:c.256T>C MANE Select	NP_694578.1:p.Tyr86His