Canonical Allele Identifier: CA372290293

Gene: KCNQ3

Linked Data

• MyVariant Identifiers: chr8:g.133187701A>T (hg19) ; chr8:g.132175454A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175454A>T , CM000670.2:g.132175454A>T	GRCh38
NC_000008.10:g.133187701A>T , CM000670.1:g.133187701A>T	GRCh37
NC_000008.9:g.133256883A>T	NCBI36
NG_008854.2:g.310304T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.932T>A MANE Select	ENSP00000373648.3:p.Leu311Gln
ENST00000521134.6:c.572T>A	ENSP00000429799.1:p.Leu191Gln
ENST00000638588.1:c.605T>A	ENSP00000491940.1:p.Leu202Gln
ENST00000639358.1:c.582T>A
ENST00000639496.1:c.605T>A	ENSP00000491165.1:p.Leu202Gln
ENST00000388996.8:c.932T>A	ENSP00000373648.3:p.Leu311Gln
ENST00000519445.5:c.932T>A	ENSP00000428790.1:p.Leu311Gln
ENST00000519589.1:n.710T>A
ENST00000521134.5:c.572T>A	ENSP00000429799.1:p.Leu191Gln
ENST00000621976.1:c.569T>A	ENSP00000482510.1:p.Leu190Gln
NM_001204824.1:c.572T>A	NP_001191753.1:p.Leu191Gln
NM_004519.3:c.932T>A	NP_004510.1:p.Leu311Gln
XM_005250914.2:c.-225T>A	XP_005250971.1:n.-225T>A
XM_006716555.2:c.224T>A	XP_006716618.1:p.Leu75Gln
XM_011517026.1:c.572T>A	XP_011515328.1:p.Leu191Gln
XM_005250914.3:c.-225T>A	XP_005250971.1:n.-225T>A
XM_006716555.3:c.224T>A	XP_006716618.1:p.Leu75Gln
XM_011517026.2:c.572T>A	XP_011515328.1:p.Leu191Gln
XM_017013400.1:c.710T>A	XP_016868889.1:p.Leu237Gln
NM_004519.4:c.932T>A MANE Select	NP_004510.1:p.Leu311Gln
NM_001204824.2:c.572T>A	NP_001191753.1:p.Leu191Gln