Canonical Allele Identifier: CA315619

Gene: KCNQ3

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132134369G>T , CM000670.2:g.132134369G>T	GRCh38
NC_000008.10:g.133146616G>T , CM000670.1:g.133146616G>T	GRCh37
NC_000008.9:g.133215798G>T	NCBI36
NG_008854.2:g.351389C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.1720C>A MANE Select	ENSP00000373648.3:p.Pro574Thr
ENST00000521134.6:c.1360C>A	ENSP00000429799.1:p.Pro454Thr
ENST00000638588.1:c.1393C>A	ENSP00000491940.1:p.Pro465Thr
ENST00000639496.1:c.*344C>A	ENSP00000491165.1:n.*344C>A
ENST00000388996.8:c.1720C>A	ENSP00000373648.3:p.Pro574Thr
ENST00000519445.5:c.1720C>A	ENSP00000428790.1:p.Pro574Thr
ENST00000519589.1:n.2448C>A
ENST00000521134.5:c.1360C>A	ENSP00000429799.1:p.Pro454Thr
ENST00000621976.1:c.1357C>A	ENSP00000482510.1:p.Pro453Thr
NM_001204824.1:c.1360C>A	NP_001191753.1:p.Pro454Thr
NM_004519.3:c.1720C>A	NP_004510.1:p.Pro574Thr
XM_005250914.2:c.475C>A	XP_005250971.1:p.Pro159Thr
XM_006716555.2:c.1012C>A	XP_006716618.1:p.Pro338Thr
XM_011517026.1:c.1360C>A	XP_011515328.1:p.Pro454Thr
XM_005250914.3:c.475C>A	XP_005250971.1:p.Pro159Thr
XM_006716555.3:c.1012C>A	XP_006716618.1:p.Pro338Thr
XM_011517026.2:c.1360C>A	XP_011515328.1:p.Pro454Thr
XM_017013400.1:c.1498C>A	XP_016868889.1:p.Pro500Thr
NM_004519.4:c.1720C>A MANE Select	NP_004510.1:p.Pro574Thr
NM_001204824.2:c.1360C>A	NP_001191753.1:p.Pro454Thr