Canonical Allele Identifier: CA4880507

Gene: KCNQ3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132129802C>T , CM000670.2:g.132129802C>T	GRCh38
NC_000008.10:g.133142049C>T , CM000670.1:g.133142049C>T	GRCh37
NC_000008.9:g.133211231C>T	NCBI36
NG_008854.2:g.355956G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004519.4:c.2079G>A MANE Select	NP_004510.1:p.Pro693=
ENST00000388996.10:c.2079G>A MANE Select	ENSP00000373648.3:p.Pro693=
NM_001204824.1:c.1719G>A	NP_001191753.1:p.Pro573=
NM_001204824.2:c.1719G>A	NP_001191753.1:p.Pro573=
NM_004519.3:c.2079G>A	NP_004510.1:p.Pro693=
ENST00000388996.8:c.2079G>A	ENSP00000373648.3:p.Pro693=
ENST00000519445.5:c.2043G>A	ENSP00000428790.1:p.Pro681=
ENST00000519589.1:n.2807G>A
ENST00000521134.5:c.1719G>A	ENSP00000429799.1:p.Pro573=
ENST00000521134.6:c.1719G>A	ENSP00000429799.1:p.Pro573=
ENST00000621976.1:c.1716G>A	ENSP00000482510.1:p.Pro572=
ENST00000638588.1:c.1752G>A	ENSP00000491940.1:p.Pro584=
ENST00000639496.1:c.*703G>A	ENSP00000491165.1:n.*703G>A
XM_005250914.2:c.834G>A	XP_005250971.1:p.Pro278=
XM_005250914.3:c.834G>A	XP_005250971.1:p.Pro278=
XM_006716555.2:c.1371G>A	XP_006716618.1:p.Pro457=
XM_006716555.3:c.1371G>A	XP_006716618.1:p.Pro457=
XM_011517026.1:c.1719G>A	XP_011515328.1:p.Pro573=
XM_011517026.2:c.1719G>A	XP_011515328.1:p.Pro573=
XM_017013400.1:c.1857G>A	XP_016868889.1:p.Pro619=