Canonical Allele Identifier: CA2688627199

Gene: KCNQ3

Linked Data

• gnomAD v4: 8-132174219-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132174219C>G , CM000670.2:g.132174219C>G	GRCh38
NC_000008.10:g.133186466C>G , CM000670.1:g.133186466C>G	GRCh37
NC_000008.9:g.133255648C>G	NCBI36
NG_008854.2:g.311539G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000388996.10:c.1044+20G>C MANE Select	ENSP00000373648.3:n.1044+20G>C
ENST00000521134.6:c.684+20G>C	ENSP00000429799.1:n.684+20G>C
ENST00000638588.1:c.717+20G>C	ENSP00000491940.1:n.717+20G>C
ENST00000639358.1:c.694+20G>C
ENST00000639496.1:c.717+20G>C	ENSP00000491165.1:n.717+20G>C
ENST00000388996.8:c.1044+20G>C	ENSP00000373648.3:n.1044+20G>C
ENST00000519445.5:c.1044+20G>C	ENSP00000428790.1:n.1044+20G>C
ENST00000519589.1:n.822+20G>C
ENST00000521134.5:c.684+20G>C	ENSP00000429799.1:n.684+20G>C
ENST00000621976.1:c.681+20G>C	ENSP00000482510.1:n.681+20G>C
NM_001204824.1:c.684+20G>C	NP_001191753.1:n.684+20G>C
NM_004519.3:c.1044+20G>C	NP_004510.1:n.1044+20G>C
XM_005250914.2:c.-113+20G>C	XP_005250971.1:n.-113+20G>C
XM_006716555.2:c.336+20G>C	XP_006716618.1:n.336+20G>C
XM_011517026.1:c.684+20G>C	XP_011515328.1:n.684+20G>C
XM_005250914.3:c.-113+20G>C	XP_005250971.1:n.-113+20G>C
XM_006716555.3:c.336+20G>C	XP_006716618.1:n.336+20G>C
XM_011517026.2:c.684+20G>C	XP_011515328.1:n.684+20G>C
XM_017013400.1:c.822+20G>C	XP_016868889.1:n.822+20G>C
NM_004519.4:c.1044+20G>C MANE Select	NP_004510.1:n.1044+20G>C
NM_001204824.2:c.684+20G>C	NP_001191753.1:n.684+20G>C