Canonical Allele Identifier: CA4278194

Gene: KCTD7

Linked Data

• ClinVar Variation Id: 1432167
• ClinVar RCV Id: RCV001959803
• dbSNP Id: rs529063727
• ExAC: 7:66098299 A / G
• gnomAD v2: 7-66098299-A-G
• gnomAD v3: 7-66633312-A-G
• gnomAD v4: 7-66633312-A-G
• MyVariant Identifiers: chr7:g.66098299A>G (hg19) ; chr7:g.66633312A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66633312A>G , CM000669.2:g.66633312A>G	GRCh38
NC_000007.13:g.66098299A>G , CM000669.1:g.66098299A>G	GRCh37
NC_000007.12:g.65735734A>G	NCBI36
NG_028110.1:g.9432A>G
NG_028110.2:g.9432A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.182A>G	ENSP00000275532.4:p.His61Arg
ENST00000449064.6:c.160A>G
ENST00000503687.2:c.144+4104A>G	ENSP00000421074.1:n.144+4104A>G
ENST00000638524.1:c.139+4104A>G
ENST00000638540.1:c.118+4104A>G
ENST00000639828.2:c.182A>G MANE Select	ENSP00000492240.1:p.His61Arg
ENST00000639879.1:c.182A>G	ENSP00000492161.1:p.His61Arg
ENST00000640234.1:c.52A>G
ENST00000640385.1:c.182A>G	ENSP00000491193.1:p.His61Arg
ENST00000640851.1:c.182A>G	ENSP00000492577.1:p.His61Arg
ENST00000275532.7:c.182A>G	ENSP00000275532.3:p.His61Arg
ENST00000443322.1:c.182A>G	ENSP00000411624.1:p.His61Arg
ENST00000449064.5:c.144+4104A>G	ENSP00000388463.1:n.144+4104A>G
ENST00000503687.1:c.144+4104A>G	ENSP00000421074.1:n.144+4104A>G
NM_001167961.2:c.182A>G	NP_001161433.1:p.His61Arg
NM_153033.4:c.182A>G	NP_694578.1:p.His61Arg
NM_153033.5:c.182A>G MANE Select	NP_694578.1:p.His61Arg