Canonical Allele Identifier: CA2579251672

Gene: KCNQ3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132174224_132174225del , CM000670.2:g.132174224_132174225del	GRCh38
NC_000008.10:g.133186471_133186472del , CM000670.1:g.133186471_133186472del	GRCh37
NC_000008.9:g.133255653_133255654del	NCBI36
NG_008854.2:g.311537_311538del

Transcript Alleles

HGVS	Amino-acid change
ENST00000388996.10:c.1044+18_1044+19del MANE Select	ENSP00000373648.3:n.1044+18_1044+19del
ENST00000521134.6:c.684+18_684+19del	ENSP00000429799.1:n.684+18_684+19del
ENST00000638588.1:c.717+18_717+19del	ENSP00000491940.1:n.717+18_717+19del
ENST00000639358.1:c.694+18_694+19del
ENST00000639496.1:c.717+18_717+19del	ENSP00000491165.1:n.717+18_717+19del
ENST00000388996.8:c.1044+18_1044+19del	ENSP00000373648.3:n.1044+18_1044+19del
ENST00000519445.5:c.1044+18_1044+19del	ENSP00000428790.1:n.1044+18_1044+19del
ENST00000519589.1:n.822+18_822+19del
ENST00000521134.5:c.684+18_684+19del	ENSP00000429799.1:n.684+18_684+19del
ENST00000621976.1:c.681+18_681+19del	ENSP00000482510.1:n.681+18_681+19del
NM_001204824.1:c.684+18_684+19del	NP_001191753.1:n.684+18_684+19del
NM_004519.3:c.1044+18_1044+19del	NP_004510.1:n.1044+18_1044+19del
XM_005250914.2:c.-113+18_-113+19del	XP_005250971.1:n.-113+18_-113+19del
XM_006716555.2:c.336+18_336+19del	XP_006716618.1:n.336+18_336+19del
XM_011517026.1:c.684+18_684+19del	XP_011515328.1:n.684+18_684+19del
XM_005250914.3:c.-113+18_-113+19del	XP_005250971.1:n.-113+18_-113+19del
XM_006716555.3:c.336+18_336+19del	XP_006716618.1:n.336+18_336+19del
XM_011517026.2:c.684+18_684+19del	XP_011515328.1:n.684+18_684+19del
XM_017013400.1:c.822+18_822+19del	XP_016868889.1:n.822+18_822+19del
NM_004519.4:c.1044+18_1044+19del MANE Select	NP_004510.1:n.1044+18_1044+19del
NM_001204824.2:c.684+18_684+19del	NP_001191753.1:n.684+18_684+19del