Canonical Allele Identifier: CA372290303

Gene: KCNQ3

Linked Data

• MyVariant Identifiers: chr8:g.133187706C>G (hg19) ; chr8:g.132175459C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175459C>G , CM000670.2:g.132175459C>G	GRCh38
NC_000008.10:g.133187706C>G , CM000670.1:g.133187706C>G	GRCh37
NC_000008.9:g.133256888C>G	NCBI36
NG_008854.2:g.310299G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.927G>C MANE Select	ENSP00000373648.3:p.Trp309Cys
ENST00000521134.6:c.567G>C	ENSP00000429799.1:p.Trp189Cys
ENST00000638588.1:c.600G>C	ENSP00000491940.1:p.Trp200Cys
ENST00000639358.1:c.577G>C
ENST00000639496.1:c.600G>C	ENSP00000491165.1:p.Trp200Cys
ENST00000388996.8:c.927G>C	ENSP00000373648.3:p.Trp309Cys
ENST00000519445.5:c.927G>C	ENSP00000428790.1:p.Trp309Cys
ENST00000519589.1:n.705G>C
ENST00000521134.5:c.567G>C	ENSP00000429799.1:p.Trp189Cys
ENST00000621976.1:c.564G>C	ENSP00000482510.1:p.Trp188Cys
NM_001204824.1:c.567G>C	NP_001191753.1:p.Trp189Cys
NM_004519.3:c.927G>C	NP_004510.1:p.Trp309Cys
XM_005250914.2:c.-230G>C	XP_005250971.1:n.-230G>C
XM_006716555.2:c.219G>C	XP_006716618.1:p.Trp73Cys
XM_011517026.1:c.567G>C	XP_011515328.1:p.Trp189Cys
XM_005250914.3:c.-230G>C	XP_005250971.1:n.-230G>C
XM_006716555.3:c.219G>C	XP_006716618.1:p.Trp73Cys
XM_011517026.2:c.567G>C	XP_011515328.1:p.Trp189Cys
XM_017013400.1:c.705G>C	XP_016868889.1:p.Trp235Cys
NM_004519.4:c.927G>C MANE Select	NP_004510.1:p.Trp309Cys
NM_001204824.2:c.567G>C	NP_001191753.1:p.Trp189Cys