Canonical Allele Identifier: CA847635099

Gene: KCNQ3

Linked Data

• dbSNP Id: rs1476719407
• MyVariant Identifiers: chr8:g.133187972_133187978del (hg19) ; chr8:g.132175725_132175731del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175726_132175732del , CM000670.2:g.132175726_132175732del	GRCh38
NC_000008.10:g.133187973_133187979del , CM000670.1:g.133187973_133187979del	GRCh37
NC_000008.9:g.133257155_133257161del	NCBI36
NG_008854.2:g.310027_310033del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.778-123_778-117del MANE Select	ENSP00000373648.3:n.778-123_778-117del
ENST00000521134.6:c.418-123_418-117del	ENSP00000429799.1:n.418-123_418-117del
ENST00000638588.1:c.451-123_451-117del	ENSP00000491940.1:n.451-123_451-117del
ENST00000639358.1:c.428-123_428-117del
ENST00000639496.1:c.451-123_451-117del	ENSP00000491165.1:n.451-123_451-117del
ENST00000388996.8:c.778-123_778-117del	ENSP00000373648.3:n.778-123_778-117del
ENST00000519445.5:c.778-123_778-117del	ENSP00000428790.1:n.778-123_778-117del
ENST00000519589.1:n.556-123_556-117del
ENST00000521134.5:c.418-123_418-117del	ENSP00000429799.1:n.418-123_418-117del
ENST00000621976.1:c.415-123_415-117del	ENSP00000482510.1:n.415-123_415-117del
NM_001204824.1:c.418-123_418-117del	NP_001191753.1:n.418-123_418-117del
NM_004519.3:c.778-123_778-117del	NP_004510.1:n.778-123_778-117del
XM_005250914.2:c.-379-123_-379-117del	XP_005250971.1:n.-379-123_-379-117del
XM_006716555.2:c.70-123_70-117del	XP_006716618.1:n.70-123_70-117del
XM_011517026.1:c.418-123_418-117del	XP_011515328.1:n.418-123_418-117del
XM_005250914.3:c.-379-123_-379-117del	XP_005250971.1:n.-379-123_-379-117del
XM_006716555.3:c.70-123_70-117del	XP_006716618.1:n.70-123_70-117del
XM_011517026.2:c.418-123_418-117del	XP_011515328.1:n.418-123_418-117del
XM_017013400.1:c.556-123_556-117del	XP_016868889.1:n.556-123_556-117del
NM_004519.4:c.778-123_778-117del MANE Select	NP_004510.1:n.778-123_778-117del
NM_001204824.2:c.418-123_418-117del	NP_001191753.1:n.418-123_418-117del