Canonical Allele Identifier: CA372290469

Gene: KCNQ3

Linked Data

• MyVariant Identifiers: chr8:g.133187780C>T (hg19) ; chr8:g.132175533C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175533C>T , CM000670.2:g.132175533C>T	GRCh38
NC_000008.10:g.133187780C>T , CM000670.1:g.133187780C>T	GRCh37
NC_000008.9:g.133256962C>T	NCBI36
NG_008854.2:g.310225G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.853G>A MANE Select	ENSP00000373648.3:p.Asp285Asn
ENST00000521134.6:c.493G>A	ENSP00000429799.1:p.Asp165Asn
ENST00000638588.1:c.526G>A	ENSP00000491940.1:p.Asp176Asn
ENST00000639358.1:c.503G>A
ENST00000639496.1:c.526G>A	ENSP00000491165.1:p.Asp176Asn
ENST00000388996.8:c.853G>A	ENSP00000373648.3:p.Asp285Asn
ENST00000519445.5:c.853G>A	ENSP00000428790.1:p.Asp285Asn
ENST00000519589.1:n.631G>A
ENST00000521134.5:c.493G>A	ENSP00000429799.1:p.Asp165Asn
ENST00000621976.1:c.490G>A	ENSP00000482510.1:p.Asp164Asn
NM_001204824.1:c.493G>A	NP_001191753.1:p.Asp165Asn
NM_004519.3:c.853G>A	NP_004510.1:p.Asp285Asn
XM_005250914.2:c.-304G>A	XP_005250971.1:n.-304G>A
XM_006716555.2:c.145G>A	XP_006716618.1:p.Asp49Asn
XM_011517026.1:c.493G>A	XP_011515328.1:p.Asp165Asn
XM_005250914.3:c.-304G>A	XP_005250971.1:n.-304G>A
XM_006716555.3:c.145G>A	XP_006716618.1:p.Asp49Asn
XM_011517026.2:c.493G>A	XP_011515328.1:p.Asp165Asn
XM_017013400.1:c.631G>A	XP_016868889.1:p.Asp211Asn
NM_004519.4:c.853G>A MANE Select	NP_004510.1:p.Asp285Asn
NM_001204824.2:c.493G>A	NP_001191753.1:p.Asp165Asn