Canonical Allele Identifier: CA372290382

Gene: KCNQ3

Linked Data

• MyVariant Identifiers: chr8:g.133187741C>G (hg19) ; chr8:g.132175494C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175494C>G , CM000670.2:g.132175494C>G	GRCh38
NC_000008.10:g.133187741C>G , CM000670.1:g.133187741C>G	GRCh37
NC_000008.9:g.133256923C>G	NCBI36
NG_008854.2:g.310264G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000388996.10:c.892G>C MANE Select	ENSP00000373648.3:p.Glu298Gln
ENST00000521134.6:c.532G>C	ENSP00000429799.1:p.Glu178Gln
ENST00000638588.1:c.565G>C	ENSP00000491940.1:p.Glu189Gln
ENST00000639358.1:c.542G>C
ENST00000639496.1:c.565G>C	ENSP00000491165.1:p.Glu189Gln
ENST00000388996.8:c.892G>C	ENSP00000373648.3:p.Glu298Gln
ENST00000519445.5:c.892G>C	ENSP00000428790.1:p.Glu298Gln
ENST00000519589.1:n.670G>C
ENST00000521134.5:c.532G>C	ENSP00000429799.1:p.Glu178Gln
ENST00000621976.1:c.529G>C	ENSP00000482510.1:p.Glu177Gln
NM_001204824.1:c.532G>C	NP_001191753.1:p.Glu178Gln
NM_004519.3:c.892G>C	NP_004510.1:p.Glu298Gln
XM_005250914.2:c.-265G>C	XP_005250971.1:n.-265G>C
XM_006716555.2:c.184G>C	XP_006716618.1:p.Glu62Gln
XM_011517026.1:c.532G>C	XP_011515328.1:p.Glu178Gln
XM_005250914.3:c.-265G>C	XP_005250971.1:n.-265G>C
XM_006716555.3:c.184G>C	XP_006716618.1:p.Glu62Gln
XM_011517026.2:c.532G>C	XP_011515328.1:p.Glu178Gln
XM_017013400.1:c.670G>C	XP_016868889.1:p.Glu224Gln
NM_004519.4:c.892G>C MANE Select	NP_004510.1:p.Glu298Gln
NM_001204824.2:c.532G>C	NP_001191753.1:p.Glu178Gln