Canonical Allele Identifier: CA372290086

Gene: KCNQ3

Linked Data

• MyVariant Identifiers: chr8:g.133186508A>C (hg19) ; chr8:g.132174261A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132174261A>C , CM000670.2:g.132174261A>C	GRCh38
NC_000008.10:g.133186508A>C , CM000670.1:g.133186508A>C	GRCh37
NC_000008.9:g.133255690A>C	NCBI36
NG_008854.2:g.311497T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.1022T>G MANE Select	ENSP00000373648.3:p.Val341Gly
ENST00000521134.6:c.662T>G	ENSP00000429799.1:p.Val221Gly
ENST00000638588.1:c.695T>G	ENSP00000491940.1:p.Val232Gly
ENST00000639358.1:c.672T>G
ENST00000639496.1:c.695T>G	ENSP00000491165.1:p.Val232Gly
ENST00000388996.8:c.1022T>G	ENSP00000373648.3:p.Val341Gly
ENST00000519445.5:c.1022T>G	ENSP00000428790.1:p.Val341Gly
ENST00000519589.1:n.800T>G
ENST00000521134.5:c.662T>G	ENSP00000429799.1:p.Val221Gly
ENST00000621976.1:c.659T>G	ENSP00000482510.1:p.Val220Gly
NM_001204824.1:c.662T>G	NP_001191753.1:p.Val221Gly
NM_004519.3:c.1022T>G	NP_004510.1:p.Val341Gly
XM_005250914.2:c.-135T>G	XP_005250971.1:n.-135T>G
XM_006716555.2:c.314T>G	XP_006716618.1:p.Val105Gly
XM_011517026.1:c.662T>G	XP_011515328.1:p.Val221Gly
XM_005250914.3:c.-135T>G	XP_005250971.1:n.-135T>G
XM_006716555.3:c.314T>G	XP_006716618.1:p.Val105Gly
XM_011517026.2:c.662T>G	XP_011515328.1:p.Val221Gly
XM_017013400.1:c.800T>G	XP_016868889.1:p.Val267Gly
NM_004519.4:c.1022T>G MANE Select	NP_004510.1:p.Val341Gly
NM_001204824.2:c.662T>G	NP_001191753.1:p.Val221Gly