Canonical Allele Identifier: CA372290560

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 1720472
• ClinVar RCV Id: RCV002298207
• MyVariant Identifiers: chr8:g.133187822T>G (hg19) ; chr8:g.132175575T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175575T>G , CM000670.2:g.132175575T>G	GRCh38
NC_000008.10:g.133187822T>G , CM000670.1:g.133187822T>G	GRCh37
NC_000008.9:g.133257004T>G	NCBI36
NG_008854.2:g.310183A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.811A>C MANE Select	ENSP00000373648.3:p.Thr271Pro
ENST00000521134.6:c.451A>C	ENSP00000429799.1:p.Thr151Pro
ENST00000638588.1:c.484A>C	ENSP00000491940.1:p.Thr162Pro
ENST00000639358.1:c.461A>C
ENST00000639496.1:c.484A>C	ENSP00000491165.1:p.Thr162Pro
ENST00000388996.8:c.811A>C	ENSP00000373648.3:p.Thr271Pro
ENST00000519445.5:c.811A>C	ENSP00000428790.1:p.Thr271Pro
ENST00000519589.1:n.589A>C
ENST00000521134.5:c.451A>C	ENSP00000429799.1:p.Thr151Pro
ENST00000621976.1:c.448A>C	ENSP00000482510.1:p.Thr150Pro
NM_001204824.1:c.451A>C	NP_001191753.1:p.Thr151Pro
NM_004519.3:c.811A>C	NP_004510.1:p.Thr271Pro
XM_005250914.2:c.-346A>C	XP_005250971.1:n.-346A>C
XM_006716555.2:c.103A>C	XP_006716618.1:p.Thr35Pro
XM_011517026.1:c.451A>C	XP_011515328.1:p.Thr151Pro
XM_005250914.3:c.-346A>C	XP_005250971.1:n.-346A>C
XM_006716555.3:c.103A>C	XP_006716618.1:p.Thr35Pro
XM_011517026.2:c.451A>C	XP_011515328.1:p.Thr151Pro
XM_017013400.1:c.589A>C	XP_016868889.1:p.Thr197Pro
NM_004519.4:c.811A>C MANE Select	NP_004510.1:p.Thr271Pro
NM_001204824.2:c.451A>C	NP_001191753.1:p.Thr151Pro