Canonical Allele Identifier: CA372290048

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 1697976
• ClinVar RCV Id: RCV002269399
• dbSNP Id: rs2130128031
• MyVariant Identifiers: chr8:g.133186490G>A (hg19) ; chr8:g.132174243G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132174243G>A , CM000670.2:g.132174243G>A	GRCh38
NC_000008.10:g.133186490G>A , CM000670.1:g.133186490G>A	GRCh37
NC_000008.9:g.133255672G>A	NCBI36
NG_008854.2:g.311515C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.1040C>T MANE Select	ENSP00000373648.3:p.Pro347Leu
ENST00000521134.6:c.680C>T	ENSP00000429799.1:p.Pro227Leu
ENST00000638588.1:c.713C>T	ENSP00000491940.1:p.Pro238Leu
ENST00000639358.1:c.690C>T
ENST00000639496.1:c.713C>T	ENSP00000491165.1:p.Pro238Leu
ENST00000388996.8:c.1040C>T	ENSP00000373648.3:p.Pro347Leu
ENST00000519445.5:c.1040C>T	ENSP00000428790.1:p.Pro347Leu
ENST00000519589.1:n.818C>T
ENST00000521134.5:c.680C>T	ENSP00000429799.1:p.Pro227Leu
ENST00000621976.1:c.677C>T	ENSP00000482510.1:p.Pro226Leu
NM_001204824.1:c.680C>T	NP_001191753.1:p.Pro227Leu
NM_004519.3:c.1040C>T	NP_004510.1:p.Pro347Leu
XM_005250914.2:c.-117C>T	XP_005250971.1:n.-117C>T
XM_006716555.2:c.332C>T	XP_006716618.1:p.Pro111Leu
XM_011517026.1:c.680C>T	XP_011515328.1:p.Pro227Leu
XM_005250914.3:c.-117C>T	XP_005250971.1:n.-117C>T
XM_006716555.3:c.332C>T	XP_006716618.1:p.Pro111Leu
XM_011517026.2:c.680C>T	XP_011515328.1:p.Pro227Leu
XM_017013400.1:c.818C>T	XP_016868889.1:p.Pro273Leu
NM_004519.4:c.1040C>T MANE Select	NP_004510.1:p.Pro347Leu
NM_001204824.2:c.680C>T	NP_001191753.1:p.Pro227Leu