Canonical Allele Identifier: CA315685

Gene: KCTD7

Linked Data

• ClinVar Variation Id: 206011
• ClinVar RCV Id: RCV000765971 ; RCV001781555 ; RCV002314727
• dbSNP Id: rs200321023
• ExAC: 7:66098310 C / T
• gnomAD v2: 7-66098310-C-T
• gnomAD v3: 7-66633323-C-T
• gnomAD v4: 7-66633323-C-T
• MyVariant Identifiers: chr7:g.66098310C>T (hg19) ; chr7:g.66633323C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66633323C>T , CM000669.2:g.66633323C>T	GRCh38
NC_000007.13:g.66098310C>T , CM000669.1:g.66098310C>T	GRCh37
NC_000007.12:g.65735745C>T	NCBI36
NG_028110.1:g.9443C>T
NG_028110.2:g.9443C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.193C>T	ENSP00000275532.4:p.Arg65Cys
ENST00000449064.6:c.171C>T
ENST00000503687.2:c.144+4115C>T	ENSP00000421074.1:n.144+4115C>T
ENST00000638524.1:c.139+4115C>T
ENST00000638540.1:c.118+4115C>T
ENST00000639828.2:c.193C>T MANE Select	ENSP00000492240.1:p.Arg65Cys
ENST00000639879.1:c.193C>T	ENSP00000492161.1:p.Arg65Cys
ENST00000640234.1:c.63C>T
ENST00000640385.1:c.193C>T	ENSP00000491193.1:p.Arg65Cys
ENST00000640851.1:c.193C>T	ENSP00000492577.1:p.Arg65Cys
ENST00000275532.7:c.193C>T	ENSP00000275532.3:p.Arg65Cys
ENST00000443322.1:c.193C>T	ENSP00000411624.1:p.Arg65Cys
ENST00000449064.5:c.144+4115C>T	ENSP00000388463.1:n.144+4115C>T
ENST00000503687.1:c.144+4115C>T	ENSP00000421074.1:n.144+4115C>T
NM_001167961.2:c.193C>T	NP_001161433.1:p.Arg65Cys
NM_153033.4:c.193C>T	NP_694578.1:p.Arg65Cys
NM_153033.5:c.193C>T MANE Select	NP_694578.1:p.Arg65Cys