Canonical Allele Identifier: CA372290168

Gene: KCNQ3

Linked Data

• MyVariant Identifiers: chr8:g.133186547T>G (hg19) ; chr8:g.132174300T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132174300T>G , CM000670.2:g.132174300T>G	GRCh38
NC_000008.10:g.133186547T>G , CM000670.1:g.133186547T>G	GRCh37
NC_000008.9:g.133255729T>G	NCBI36
NG_008854.2:g.311458A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000388996.10:c.983A>C MANE Select	ENSP00000373648.3:p.Glu328Ala
ENST00000521134.6:c.623A>C	ENSP00000429799.1:p.Glu208Ala
ENST00000638588.1:c.656A>C	ENSP00000491940.1:p.Glu219Ala
ENST00000639358.1:c.633A>C
ENST00000639496.1:c.656A>C	ENSP00000491165.1:p.Glu219Ala
ENST00000388996.8:c.983A>C	ENSP00000373648.3:p.Glu328Ala
ENST00000519445.5:c.983A>C	ENSP00000428790.1:p.Glu328Ala
ENST00000519589.1:n.761A>C
ENST00000521134.5:c.623A>C	ENSP00000429799.1:p.Glu208Ala
ENST00000621976.1:c.620A>C	ENSP00000482510.1:p.Glu207Ala
NM_001204824.1:c.623A>C	NP_001191753.1:p.Glu208Ala
NM_004519.3:c.983A>C	NP_004510.1:p.Glu328Ala
XM_005250914.2:c.-174A>C	XP_005250971.1:n.-174A>C
XM_006716555.2:c.275A>C	XP_006716618.1:p.Glu92Ala
XM_011517026.1:c.623A>C	XP_011515328.1:p.Glu208Ala
XM_005250914.3:c.-174A>C	XP_005250971.1:n.-174A>C
XM_006716555.3:c.275A>C	XP_006716618.1:p.Glu92Ala
XM_011517026.2:c.623A>C	XP_011515328.1:p.Glu208Ala
XM_017013400.1:c.761A>C	XP_016868889.1:p.Glu254Ala
NM_004519.4:c.983A>C MANE Select	NP_004510.1:p.Glu328Ala
NM_001204824.2:c.623A>C	NP_001191753.1:p.Glu208Ala