Canonical Allele Identifier: CA160219444

Gene: KCTD7

Linked Data

• dbSNP Id: rs912580413
• gnomAD v2: 7-66096088-G-C
• gnomAD v3: 7-66631101-G-C
• gnomAD v4: 7-66631101-G-C
• MyVariant Identifiers: chr7:g.66096088G>C (hg19) ; chr7:g.66631101G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66631101G>C , CM000669.2:g.66631101G>C	GRCh38
NC_000007.13:g.66096088G>C , CM000669.1:g.66096088G>C	GRCh37
NC_000007.12:g.65733523G>C	NCBI36
NG_028110.1:g.7221G>C
NG_028110.2:g.7221G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000275532.8:c.144+1893G>C	ENSP00000275532.4:n.144+1893G>C
ENST00000449064.6:c.122+1893G>C
ENST00000503687.2:c.144+1893G>C	ENSP00000421074.1:n.144+1893G>C
ENST00000638524.1:c.139+1893G>C
ENST00000638540.1:c.118+1893G>C
ENST00000639828.2:c.144+1893G>C MANE Select	ENSP00000492240.1:n.144+1893G>C
ENST00000639879.1:c.144+1893G>C	ENSP00000492161.1:n.144+1893G>C
ENST00000640234.1:c.14+1893G>C
ENST00000640385.1:c.144+1893G>C	ENSP00000491193.1:n.144+1893G>C
ENST00000640851.1:c.144+1893G>C	ENSP00000492577.1:n.144+1893G>C
ENST00000275532.7:c.144+1893G>C	ENSP00000275532.3:n.144+1893G>C
ENST00000443322.1:c.144+1893G>C	ENSP00000411624.1:n.144+1893G>C
ENST00000449064.5:c.144+1893G>C	ENSP00000388463.1:n.144+1893G>C
ENST00000503687.1:c.144+1893G>C	ENSP00000421074.1:n.144+1893G>C
NM_001167961.2:c.144+1893G>C	NP_001161433.1:n.144+1893G>C
NM_153033.4:c.144+1893G>C	NP_694578.1:n.144+1893G>C
NM_153033.5:c.144+1893G>C MANE Select	NP_694578.1:n.144+1893G>C