Canonical Allele Identifier: CA372290189

Gene: KCNQ3

Linked Data

• MyVariant Identifiers: chr8:g.133186556T>A (hg19) ; chr8:g.132174309T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132174309T>A , CM000670.2:g.132174309T>A	GRCh38
NC_000008.10:g.133186556T>A , CM000670.1:g.133186556T>A	GRCh37
NC_000008.9:g.133255738T>A	NCBI36
NG_008854.2:g.311449A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000388996.10:c.974A>T MANE Select	ENSP00000373648.3:p.Lys325Ile
ENST00000521134.6:c.614A>T	ENSP00000429799.1:p.Lys205Ile
ENST00000638588.1:c.647A>T	ENSP00000491940.1:p.Lys216Ile
ENST00000639358.1:c.624A>T
ENST00000639496.1:c.647A>T	ENSP00000491165.1:p.Lys216Ile
ENST00000388996.8:c.974A>T	ENSP00000373648.3:p.Lys325Ile
ENST00000519445.5:c.974A>T	ENSP00000428790.1:p.Lys325Ile
ENST00000519589.1:n.752A>T
ENST00000521134.5:c.614A>T	ENSP00000429799.1:p.Lys205Ile
ENST00000621976.1:c.611A>T	ENSP00000482510.1:p.Lys204Ile
NM_001204824.1:c.614A>T	NP_001191753.1:p.Lys205Ile
NM_004519.3:c.974A>T	NP_004510.1:p.Lys325Ile
XM_005250914.2:c.-183A>T	XP_005250971.1:n.-183A>T
XM_006716555.2:c.266A>T	XP_006716618.1:p.Lys89Ile
XM_011517026.1:c.614A>T	XP_011515328.1:p.Lys205Ile
XM_005250914.3:c.-183A>T	XP_005250971.1:n.-183A>T
XM_006716555.3:c.266A>T	XP_006716618.1:p.Lys89Ile
XM_011517026.2:c.614A>T	XP_011515328.1:p.Lys205Ile
XM_017013400.1:c.752A>T	XP_016868889.1:p.Lys251Ile
NM_004519.4:c.974A>T MANE Select	NP_004510.1:p.Lys325Ile
NM_001204824.2:c.614A>T	NP_001191753.1:p.Lys205Ile