Canonical Allele Identifier: CA372290077

Gene: KCNQ3

Linked Data

• gnomAD v4: 8-132174256-A-G
• MyVariant Identifiers: chr8:g.133186503A>G (hg19) ; chr8:g.132174256A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132174256A>G , CM000670.2:g.132174256A>G	GRCh38
NC_000008.10:g.133186503A>G , CM000670.1:g.133186503A>G	GRCh37
NC_000008.9:g.133255685A>G	NCBI36
NG_008854.2:g.311502T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.1027T>C MANE Select	ENSP00000373648.3:p.Phe343Leu
ENST00000521134.6:c.667T>C	ENSP00000429799.1:p.Phe223Leu
ENST00000638588.1:c.700T>C	ENSP00000491940.1:p.Phe234Leu
ENST00000639358.1:c.677T>C
ENST00000639496.1:c.700T>C	ENSP00000491165.1:p.Phe234Leu
ENST00000388996.8:c.1027T>C	ENSP00000373648.3:p.Phe343Leu
ENST00000519445.5:c.1027T>C	ENSP00000428790.1:p.Phe343Leu
ENST00000519589.1:n.805T>C
ENST00000521134.5:c.667T>C	ENSP00000429799.1:p.Phe223Leu
ENST00000621976.1:c.664T>C	ENSP00000482510.1:p.Phe222Leu
NM_001204824.1:c.667T>C	NP_001191753.1:p.Phe223Leu
NM_004519.3:c.1027T>C	NP_004510.1:p.Phe343Leu
XM_005250914.2:c.-130T>C	XP_005250971.1:n.-130T>C
XM_006716555.2:c.319T>C	XP_006716618.1:p.Phe107Leu
XM_011517026.1:c.667T>C	XP_011515328.1:p.Phe223Leu
XM_005250914.3:c.-130T>C	XP_005250971.1:n.-130T>C
XM_006716555.3:c.319T>C	XP_006716618.1:p.Phe107Leu
XM_011517026.2:c.667T>C	XP_011515328.1:p.Phe223Leu
XM_017013400.1:c.805T>C	XP_016868889.1:p.Phe269Leu
NM_004519.4:c.1027T>C MANE Select	NP_004510.1:p.Phe343Leu
NM_001204824.2:c.667T>C	NP_001191753.1:p.Phe223Leu