Canonical Allele Identifier: CA372290161

Gene: KCNQ3

Linked Data

• MyVariant Identifiers: chr8:g.133186545C>G (hg19) ; chr8:g.132174298C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132174298C>G , CM000670.2:g.132174298C>G	GRCh38
NC_000008.10:g.133186545C>G , CM000670.1:g.133186545C>G	GRCh37
NC_000008.9:g.133255727C>G	NCBI36
NG_008854.2:g.311460G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000388996.10:c.985G>C MANE Select	ENSP00000373648.3:p.Gly329Arg
ENST00000521134.6:c.625G>C	ENSP00000429799.1:p.Gly209Arg
ENST00000638588.1:c.658G>C	ENSP00000491940.1:p.Gly220Arg
ENST00000639358.1:c.635G>C
ENST00000639496.1:c.658G>C	ENSP00000491165.1:p.Gly220Arg
ENST00000388996.8:c.985G>C	ENSP00000373648.3:p.Gly329Arg
ENST00000519445.5:c.985G>C	ENSP00000428790.1:p.Gly329Arg
ENST00000519589.1:n.763G>C
ENST00000521134.5:c.625G>C	ENSP00000429799.1:p.Gly209Arg
ENST00000621976.1:c.622G>C	ENSP00000482510.1:p.Gly208Arg
NM_001204824.1:c.625G>C	NP_001191753.1:p.Gly209Arg
NM_004519.3:c.985G>C	NP_004510.1:p.Gly329Arg
XM_005250914.2:c.-172G>C	XP_005250971.1:n.-172G>C
XM_006716555.2:c.277G>C	XP_006716618.1:p.Gly93Arg
XM_011517026.1:c.625G>C	XP_011515328.1:p.Gly209Arg
XM_005250914.3:c.-172G>C	XP_005250971.1:n.-172G>C
XM_006716555.3:c.277G>C	XP_006716618.1:p.Gly93Arg
XM_011517026.2:c.625G>C	XP_011515328.1:p.Gly209Arg
XM_017013400.1:c.763G>C	XP_016868889.1:p.Gly255Arg
NM_004519.4:c.985G>C MANE Select	NP_004510.1:p.Gly329Arg
NM_001204824.2:c.625G>C	NP_001191753.1:p.Gly209Arg