Canonical Allele Identifier: CA2688627142

Gene: KCNQ3

Linked Data

• gnomAD v4: 8-132174125-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132174125G>C , CM000670.2:g.132174125G>C	GRCh38
NC_000008.10:g.133186372G>C , CM000670.1:g.133186372G>C	GRCh37
NC_000008.9:g.133255554G>C	NCBI36
NG_008854.2:g.311633C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.1044+114C>G MANE Select	ENSP00000373648.3:n.1044+114C>G
ENST00000521134.6:c.684+114C>G	ENSP00000429799.1:n.684+114C>G
ENST00000638588.1:c.717+114C>G	ENSP00000491940.1:n.717+114C>G
ENST00000639358.1:c.694+114C>G
ENST00000639496.1:c.717+114C>G	ENSP00000491165.1:n.717+114C>G
ENST00000388996.8:c.1044+114C>G	ENSP00000373648.3:n.1044+114C>G
ENST00000519445.5:c.1044+114C>G	ENSP00000428790.1:n.1044+114C>G
ENST00000519589.1:n.822+114C>G
ENST00000521134.5:c.684+114C>G	ENSP00000429799.1:n.684+114C>G
ENST00000621976.1:c.681+114C>G	ENSP00000482510.1:n.681+114C>G
NM_001204824.1:c.684+114C>G	NP_001191753.1:n.684+114C>G
NM_004519.3:c.1044+114C>G	NP_004510.1:n.1044+114C>G
XM_005250914.2:c.-113+114C>G	XP_005250971.1:n.-113+114C>G
XM_006716555.2:c.336+114C>G	XP_006716618.1:n.336+114C>G
XM_011517026.1:c.684+114C>G	XP_011515328.1:n.684+114C>G
XM_005250914.3:c.-113+114C>G	XP_005250971.1:n.-113+114C>G
XM_006716555.3:c.336+114C>G	XP_006716618.1:n.336+114C>G
XM_011517026.2:c.684+114C>G	XP_011515328.1:n.684+114C>G
XM_017013400.1:c.822+114C>G	XP_016868889.1:n.822+114C>G
NM_004519.4:c.1044+114C>G MANE Select	NP_004510.1:n.1044+114C>G
NM_001204824.2:c.684+114C>G	NP_001191753.1:n.684+114C>G