Canonical Allele Identifier: CA1820664526

Gene: KCNQ3

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175487A= , CM000670.2:g.132175487A=	GRCh38
NC_000008.10:g.133187734A= , CM000670.1:g.133187734A=	GRCh37
NC_000008.9:g.133256916A=	NCBI36
NG_008854.2:g.310271T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.899T= MANE Select	ENSP00000373648.3:p.Phe300=
ENST00000521134.6:c.539T=	ENSP00000429799.1:p.Phe180=
ENST00000638588.1:c.572T=	ENSP00000491940.1:p.Phe191=
ENST00000639358.1:c.549T=
ENST00000639496.1:c.572T=	ENSP00000491165.1:p.Phe191=
ENST00000388996.8:c.899T=	ENSP00000373648.3:p.Phe300=
ENST00000519445.5:c.899T=	ENSP00000428790.1:p.Phe300=
ENST00000519589.1:n.677T=
ENST00000521134.5:c.539T=	ENSP00000429799.1:p.Phe180=
ENST00000621976.1:c.536T=	ENSP00000482510.1:p.Phe179=
NM_001204824.1:c.539T=	NP_001191753.1:p.Phe180=
NM_004519.3:c.899T=	NP_004510.1:p.Phe300=
XM_005250914.2:c.-258T=	XP_005250971.1:n.-258T=
XM_006716555.2:c.191T=	XP_006716618.1:p.Phe64=
XM_011517026.1:c.539T=	XP_011515328.1:p.Phe180=
XM_005250914.3:c.-258T=	XP_005250971.1:n.-258T=
XM_006716555.3:c.191T=	XP_006716618.1:p.Phe64=
XM_011517026.2:c.539T=	XP_011515328.1:p.Phe180=
XM_017013400.1:c.677T=	XP_016868889.1:p.Phe226=
NM_004519.4:c.899T= MANE Select	NP_004510.1:p.Phe300=
NM_001204824.2:c.539T=	NP_001191753.1:p.Phe180=