Canonical Allele Identifier: CA372290049

Gene: KCNQ3

Linked Data

• COSMIC: COSM1096208
• MyVariant Identifiers: chr8:g.133186491G>A (hg19) ; chr8:g.132174244G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132174244G>A , CM000670.2:g.132174244G>A	GRCh38
NC_000008.10:g.133186491G>A , CM000670.1:g.133186491G>A	GRCh37
NC_000008.9:g.133255673G>A	NCBI36
NG_008854.2:g.311514C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.1039C>T MANE Select	ENSP00000373648.3:p.Pro347Ser
ENST00000521134.6:c.679C>T	ENSP00000429799.1:p.Pro227Ser
ENST00000638588.1:c.712C>T	ENSP00000491940.1:p.Pro238Ser
ENST00000639358.1:c.689C>T
ENST00000639496.1:c.712C>T	ENSP00000491165.1:p.Pro238Ser
ENST00000388996.8:c.1039C>T	ENSP00000373648.3:p.Pro347Ser
ENST00000519445.5:c.1039C>T	ENSP00000428790.1:p.Pro347Ser
ENST00000519589.1:n.817C>T
ENST00000521134.5:c.679C>T	ENSP00000429799.1:p.Pro227Ser
ENST00000621976.1:c.676C>T	ENSP00000482510.1:p.Pro226Ser
NM_001204824.1:c.679C>T	NP_001191753.1:p.Pro227Ser
NM_004519.3:c.1039C>T	NP_004510.1:p.Pro347Ser
XM_005250914.2:c.-118C>T	XP_005250971.1:n.-118C>T
XM_006716555.2:c.331C>T	XP_006716618.1:p.Pro111Ser
XM_011517026.1:c.679C>T	XP_011515328.1:p.Pro227Ser
XM_005250914.3:c.-118C>T	XP_005250971.1:n.-118C>T
XM_006716555.3:c.331C>T	XP_006716618.1:p.Pro111Ser
XM_011517026.2:c.679C>T	XP_011515328.1:p.Pro227Ser
XM_017013400.1:c.817C>T	XP_016868889.1:p.Pro273Ser
NM_004519.4:c.1039C>T MANE Select	NP_004510.1:p.Pro347Ser
NM_001204824.2:c.679C>T	NP_001191753.1:p.Pro227Ser