Canonical Allele Identifier: CA315693

Gene: KCTD7

Linked Data

• ClinVar Variation Id: 206015
• ClinVar RCV Id: RCV000188023 ; RCV000761541
• dbSNP Id: rs774026720
• ExAC: 7:66103260 G / A
• gnomAD v2: 7-66103260-G-A
• gnomAD v3: 7-66638273-G-A
• gnomAD v4: 7-66638273-G-A
• MyVariant Identifiers: chr7:g.66103260G>A (hg19) ; chr7:g.66638273G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66638273G>A , CM000669.2:g.66638273G>A	GRCh38
NC_000007.13:g.66103260G>A , CM000669.1:g.66103260G>A	GRCh37
NC_000007.12:g.65740695G>A	NCBI36
NG_028110.1:g.14393G>A
NG_028110.2:g.14393G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.335G>A	ENSP00000275532.4:p.Arg112His
ENST00000449064.6:c.313G>A
ENST00000503687.2:c.165G>A	ENSP00000421074.1:p.Ala55=
ENST00000638524.1:c.160G>A
ENST00000638540.1:c.139G>A
ENST00000639828.2:c.335G>A MANE Select	ENSP00000492240.1:p.Arg112His
ENST00000639879.1:c.335G>A	ENSP00000492161.1:p.Arg112His
ENST00000640234.1:c.205G>A
ENST00000640385.1:c.335G>A	ENSP00000491193.1:p.Arg112His
ENST00000640851.1:c.335G>A	ENSP00000492577.1:p.Arg112His
ENST00000275532.7:c.335G>A	ENSP00000275532.3:p.Arg112His
ENST00000443322.1:c.335G>A	ENSP00000411624.1:p.Arg112His
ENST00000449064.5:c.165G>A	ENSP00000388463.1:p.Ala55=
ENST00000503687.1:c.165G>A	ENSP00000421074.1:p.Ala55=
NM_001167961.2:c.335G>A	NP_001161433.1:p.Arg112His
NM_153033.4:c.335G>A	NP_694578.1:p.Arg112His
NM_153033.5:c.335G>A MANE Select	NP_694578.1:p.Arg112His