Canonical Allele Identifier: CA463070253

Gene: KCNQ3

Linked Data

• MyVariant Identifiers: chr8:g.133186489T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132174242T>A , CM000670.2:g.132174242T>A	GRCh38
NC_000008.10:g.133186489T>A , CM000670.1:g.133186489T>A	GRCh37
NC_000008.9:g.133255671T>A	NCBI36
NG_008854.2:g.311516A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.1041A>T MANE Select	ENSP00000373648.3:p.Pro347=
ENST00000521134.6:c.681A>T	ENSP00000429799.1:p.Pro227=
ENST00000638588.1:c.714A>T	ENSP00000491940.1:p.Pro238=
ENST00000639358.1:c.691A>T
ENST00000639496.1:c.714A>T	ENSP00000491165.1:p.Pro238=
ENST00000388996.8:c.1041A>T	ENSP00000373648.3:p.Pro347=
ENST00000519445.5:c.1041A>T	ENSP00000428790.1:p.Pro347=
ENST00000519589.1:n.819A>T
ENST00000521134.5:c.681A>T	ENSP00000429799.1:p.Pro227=
ENST00000621976.1:c.678A>T	ENSP00000482510.1:p.Pro226=
NM_001204824.1:c.681A>T	NP_001191753.1:p.Pro227=
NM_004519.3:c.1041A>T	NP_004510.1:p.Pro347=
XM_005250914.2:c.-116A>T	XP_005250971.1:n.-116A>T
XM_006716555.2:c.333A>T	XP_006716618.1:p.Pro111=
XM_011517026.1:c.681A>T	XP_011515328.1:p.Pro227=
XM_005250914.3:c.-116A>T	XP_005250971.1:n.-116A>T
XM_006716555.3:c.333A>T	XP_006716618.1:p.Pro111=
XM_011517026.2:c.681A>T	XP_011515328.1:p.Pro227=
XM_017013400.1:c.819A>T	XP_016868889.1:p.Pro273=
NM_004519.4:c.1041A>T MANE Select	NP_004510.1:p.Pro347=
NM_001204824.2:c.681A>T	NP_001191753.1:p.Pro227=