Canonical Allele Identifier: CA1119348444

Gene: KCNQ3

Linked Data

• dbSNP Id: rs1826529603
• gnomAD v3: 8-132175813-AGT-A
• gnomAD v4: 8-132175813-AGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175816_132175817del , CM000670.2:g.132175816_132175817del	GRCh38
NC_000008.10:g.133188063_133188064del , CM000670.1:g.133188063_133188064del	GRCh37
NC_000008.9:g.133257245_133257246del	NCBI36
NG_008854.2:g.309943_309944del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.778-207_778-206del MANE Select	ENSP00000373648.3:n.778-207_778-206del
ENST00000521134.6:c.418-207_418-206del	ENSP00000429799.1:n.418-207_418-206del
ENST00000638588.1:c.451-207_451-206del	ENSP00000491940.1:n.451-207_451-206del
ENST00000639358.1:c.428-207_428-206del
ENST00000639496.1:c.451-207_451-206del	ENSP00000491165.1:n.451-207_451-206del
ENST00000388996.8:c.778-207_778-206del	ENSP00000373648.3:n.778-207_778-206del
ENST00000519445.5:c.778-207_778-206del	ENSP00000428790.1:n.778-207_778-206del
ENST00000519589.1:n.556-207_556-206del
ENST00000521134.5:c.418-207_418-206del	ENSP00000429799.1:n.418-207_418-206del
ENST00000621976.1:c.415-207_415-206del	ENSP00000482510.1:n.415-207_415-206del
NM_001204824.1:c.418-207_418-206del	NP_001191753.1:n.418-207_418-206del
NM_004519.3:c.778-207_778-206del	NP_004510.1:n.778-207_778-206del
XM_005250914.2:c.-379-207_-379-206del	XP_005250971.1:n.-379-207_-379-206del
XM_006716555.2:c.70-207_70-206del	XP_006716618.1:n.70-207_70-206del
XM_011517026.1:c.418-207_418-206del	XP_011515328.1:n.418-207_418-206del
XM_005250914.3:c.-379-207_-379-206del	XP_005250971.1:n.-379-207_-379-206del
XM_006716555.3:c.70-207_70-206del	XP_006716618.1:n.70-207_70-206del
XM_011517026.2:c.418-207_418-206del	XP_011515328.1:n.418-207_418-206del
XM_017013400.1:c.556-207_556-206del	XP_016868889.1:n.556-207_556-206del
NM_004519.4:c.778-207_778-206del MANE Select	NP_004510.1:n.778-207_778-206del
NM_001204824.2:c.418-207_418-206del	NP_001191753.1:n.418-207_418-206del