Canonical Allele Identifier: CA367696913

Gene: KCTD7

Linked Data

• dbSNP Id: rs1318496148
• gnomAD v2: 7-66103944-A-G
• gnomAD v4: 7-66638957-A-G
• MyVariant Identifiers: chr7:g.66103944A>G (hg19) ; chr7:g.66638957A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66638957A>G , CM000669.2:g.66638957A>G	GRCh38
NC_000007.13:g.66103944A>G , CM000669.1:g.66103944A>G	GRCh37
NC_000007.12:g.65741379A>G	NCBI36
NG_028110.1:g.15077A>G
NG_028110.2:g.15077A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.555A>G	ENSP00000275532.4:p.Pro185=
ENST00000449064.6:c.505+28A>G
ENST00000503687.2:c.397+28A>G	ENSP00000421074.1:n.397+28A>G
ENST00000638524.1:c.420A>G
ENST00000638540.1:c.399A>G
ENST00000639828.2:c.595A>G MANE Select	ENSP00000492240.1:p.Ile199Val
ENST00000639879.1:c.*458A>G	ENSP00000492161.1:n.*458A>G
ENST00000640234.1:c.437+28A>G
ENST00000640385.1:c.595A>G	ENSP00000491193.1:p.Ile199Val
ENST00000640601.1:c.102A>G
ENST00000640851.1:c.567+28A>G	ENSP00000492577.1:n.567+28A>G
ENST00000275532.7:c.595A>G	ENSP00000275532.3:p.Ile199Val
ENST00000443322.1:c.595A>G	ENSP00000411624.1:p.Ile199Val
ENST00000503687.1:c.397+28A>G	ENSP00000421074.1:n.397+28A>G
NM_001167961.2:c.595A>G	NP_001161433.1:p.Ile199Val
NM_153033.4:c.595A>G	NP_694578.1:p.Ile199Val
NM_153033.5:c.595A>G MANE Select	NP_694578.1:p.Ile199Val