Canonical Allele Identifier: CA2580077322

Gene: KCTD7

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.66638434G>C , CM000669.2:g.66638434G>C	GRCh38
NC_000007.13:g.66103421G>C , CM000669.1:g.66103421G>C	GRCh37
NC_000007.12:g.65740856G>C	NCBI36
NG_028110.1:g.14554G>C
NG_028110.2:g.14554G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_153033.5:c.493+3G>C MANE Select	NP_694578.1:n.493+3G>C
ENST00000639828.2:c.493+3G>C MANE Select	ENSP00000492240.1:n.493+3G>C
NM_001167961.2:c.493+3G>C	NP_001161433.1:n.493+3G>C
NM_153033.4:c.493+3G>C	NP_694578.1:n.493+3G>C
ENST00000275532.7:c.493+3G>C	ENSP00000275532.3:n.493+3G>C
ENST00000275532.8:c.453+43G>C	ENSP00000275532.4:n.453+43G>C
ENST00000443322.1:c.493+3G>C	ENSP00000411624.1:n.493+3G>C
ENST00000449064.5:c.323+3G>C	ENSP00000388463.1:n.323+3G>C
ENST00000449064.6:c.431+43G>C
ENST00000503687.1:c.323+3G>C	ENSP00000421074.1:n.323+3G>C
ENST00000503687.2:c.323+3G>C	ENSP00000421074.1:n.323+3G>C
ENST00000638524.1:c.318+3G>C
ENST00000638540.1:c.297+3G>C
ENST00000639879.1:c.496G>C	ENSP00000492161.1:p.Glu166Gln
ENST00000640234.1:c.363+3G>C
ENST00000640385.1:c.493+3G>C	ENSP00000491193.1:n.493+3G>C
ENST00000640851.1:c.493+3G>C	ENSP00000492577.1:n.493+3G>C