Canonical Allele Identifier: CA315696

Gene: KCTD7

Linked Data

• ClinVar Variation Id: 206017
• ClinVar RCV Id: RCV000188025 ; RCV001852471
• dbSNP Id: rs796052689
• MyVariant Identifiers: chr7:g.66104053G>C (hg19) ; chr7:g.66639066G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66639066G>C , CM000669.2:g.66639066G>C	GRCh38
NC_000007.13:g.66104053G>C , CM000669.1:g.66104053G>C	GRCh37
NC_000007.12:g.65741488G>C	NCBI36
NG_028110.1:g.15186G>C
NG_028110.2:g.15186G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000275532.8:c.664G>C	ENSP00000275532.4:p.Gly222Arg
ENST00000449064.6:c.505+137G>C
ENST00000503687.2:c.397+137G>C	ENSP00000421074.1:n.397+137G>C
ENST00000638524.1:c.529G>C
ENST00000638540.1:c.508G>C
ENST00000639828.2:c.704G>C MANE Select	ENSP00000492240.1:p.Trp235Ser
ENST00000639879.1:c.*567G>C	ENSP00000492161.1:n.*567G>C
ENST00000640234.1:c.437+137G>C
ENST00000640385.1:c.704G>C	ENSP00000491193.1:p.Trp235Ser
ENST00000640601.1:c.211G>C
ENST00000640851.1:c.568-62G>C	ENSP00000492577.1:n.568-62G>C
ENST00000275532.7:c.704G>C	ENSP00000275532.3:p.Trp235Ser
ENST00000443322.1:c.704G>C	ENSP00000411624.1:p.Trp235Ser
ENST00000503687.1:c.397+137G>C	ENSP00000421074.1:n.397+137G>C
NM_001167961.2:c.704G>C	NP_001161433.1:p.Trp235Ser
NM_153033.4:c.704G>C	NP_694578.1:p.Trp235Ser
NM_153033.5:c.704G>C MANE Select	NP_694578.1:p.Trp235Ser