Canonical Allele Identifier: CA372290563

Gene: KCNQ3

Linked Data

• MyVariant Identifiers: chr8:g.133187824A>T (hg19) ; chr8:g.132175577A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175577A>T , CM000670.2:g.132175577A>T	GRCh38
NC_000008.10:g.133187824A>T , CM000670.1:g.133187824A>T	GRCh37
NC_000008.9:g.133257006A>T	NCBI36
NG_008854.2:g.310181T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.809T>A MANE Select	ENSP00000373648.3:p.Leu270Gln
ENST00000521134.6:c.449T>A	ENSP00000429799.1:p.Leu150Gln
ENST00000638588.1:c.482T>A	ENSP00000491940.1:p.Leu161Gln
ENST00000639358.1:c.459T>A
ENST00000639496.1:c.482T>A	ENSP00000491165.1:p.Leu161Gln
ENST00000388996.8:c.809T>A	ENSP00000373648.3:p.Leu270Gln
ENST00000519445.5:c.809T>A	ENSP00000428790.1:p.Leu270Gln
ENST00000519589.1:n.587T>A
ENST00000521134.5:c.449T>A	ENSP00000429799.1:p.Leu150Gln
ENST00000621976.1:c.446T>A	ENSP00000482510.1:p.Leu149Gln
NM_001204824.1:c.449T>A	NP_001191753.1:p.Leu150Gln
NM_004519.3:c.809T>A	NP_004510.1:p.Leu270Gln
XM_005250914.2:c.-348T>A	XP_005250971.1:n.-348T>A
XM_006716555.2:c.101T>A	XP_006716618.1:p.Leu34Gln
XM_011517026.1:c.449T>A	XP_011515328.1:p.Leu150Gln
XM_005250914.3:c.-348T>A	XP_005250971.1:n.-348T>A
XM_006716555.3:c.101T>A	XP_006716618.1:p.Leu34Gln
XM_011517026.2:c.449T>A	XP_011515328.1:p.Leu150Gln
XM_017013400.1:c.587T>A	XP_016868889.1:p.Leu196Gln
NM_004519.4:c.809T>A MANE Select	NP_004510.1:p.Leu270Gln
NM_001204824.2:c.449T>A	NP_001191753.1:p.Leu150Gln