Canonical Allele Identifier: CA1119348428

Gene: KCNQ3

Linked Data

• dbSNP Id: rs1826527059
• gnomAD v3: 8-132175733-CCTT-C
• gnomAD v4: 8-132175733-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175736_132175738del , CM000670.2:g.132175736_132175738del	GRCh38
NC_000008.10:g.133187983_133187985del , CM000670.1:g.133187983_133187985del	GRCh37
NC_000008.9:g.133257165_133257167del	NCBI36
NG_008854.2:g.310022_310024del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.778-128_778-126del MANE Select	ENSP00000373648.3:n.778-128_778-126del
ENST00000521134.6:c.418-128_418-126del	ENSP00000429799.1:n.418-128_418-126del
ENST00000638588.1:c.451-128_451-126del	ENSP00000491940.1:n.451-128_451-126del
ENST00000639358.1:c.428-128_428-126del
ENST00000639496.1:c.451-128_451-126del	ENSP00000491165.1:n.451-128_451-126del
ENST00000388996.8:c.778-128_778-126del	ENSP00000373648.3:n.778-128_778-126del
ENST00000519445.5:c.778-128_778-126del	ENSP00000428790.1:n.778-128_778-126del
ENST00000519589.1:n.556-128_556-126del
ENST00000521134.5:c.418-128_418-126del	ENSP00000429799.1:n.418-128_418-126del
ENST00000621976.1:c.415-128_415-126del	ENSP00000482510.1:n.415-128_415-126del
NM_001204824.1:c.418-128_418-126del	NP_001191753.1:n.418-128_418-126del
NM_004519.3:c.778-128_778-126del	NP_004510.1:n.778-128_778-126del
XM_005250914.2:c.-379-128_-379-126del	XP_005250971.1:n.-379-128_-379-126del
XM_006716555.2:c.70-128_70-126del	XP_006716618.1:n.70-128_70-126del
XM_011517026.1:c.418-128_418-126del	XP_011515328.1:n.418-128_418-126del
XM_005250914.3:c.-379-128_-379-126del	XP_005250971.1:n.-379-128_-379-126del
XM_006716555.3:c.70-128_70-126del	XP_006716618.1:n.70-128_70-126del
XM_011517026.2:c.418-128_418-126del	XP_011515328.1:n.418-128_418-126del
XM_017013400.1:c.556-128_556-126del	XP_016868889.1:n.556-128_556-126del
NM_004519.4:c.778-128_778-126del MANE Select	NP_004510.1:n.778-128_778-126del
NM_001204824.2:c.418-128_418-126del	NP_001191753.1:n.418-128_418-126del