Canonical Allele Identifier: CA4880829

Gene: KCNQ3

Linked Data

• dbSNP Id: rs745830623
• ExAC: 8:133187794 T / A
• gnomAD v2: 8-133187794-T-A
• MyVariant Identifiers: chr8:g.133187794T>A (hg19) ; chr8:g.132175547T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175547T>A , CM000670.2:g.132175547T>A	GRCh38
NC_000008.10:g.133187794T>A , CM000670.1:g.133187794T>A	GRCh37
NC_000008.9:g.133256976T>A	NCBI36
NG_008854.2:g.310211A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.839A>T MANE Select	ENSP00000373648.3:p.Tyr280Phe
ENST00000521134.6:c.479A>T	ENSP00000429799.1:p.Tyr160Phe
ENST00000638588.1:c.512A>T	ENSP00000491940.1:p.Tyr171Phe
ENST00000639358.1:c.489A>T
ENST00000639496.1:c.512A>T	ENSP00000491165.1:p.Tyr171Phe
ENST00000388996.8:c.839A>T	ENSP00000373648.3:p.Tyr280Phe
ENST00000519445.5:c.839A>T	ENSP00000428790.1:p.Tyr280Phe
ENST00000519589.1:n.617A>T
ENST00000521134.5:c.479A>T	ENSP00000429799.1:p.Tyr160Phe
ENST00000621976.1:c.476A>T	ENSP00000482510.1:p.Tyr159Phe
NM_001204824.1:c.479A>T	NP_001191753.1:p.Tyr160Phe
NM_004519.3:c.839A>T	NP_004510.1:p.Tyr280Phe
XM_005250914.2:c.-318A>T	XP_005250971.1:n.-318A>T
XM_006716555.2:c.131A>T	XP_006716618.1:p.Tyr44Phe
XM_011517026.1:c.479A>T	XP_011515328.1:p.Tyr160Phe
XM_005250914.3:c.-318A>T	XP_005250971.1:n.-318A>T
XM_006716555.3:c.131A>T	XP_006716618.1:p.Tyr44Phe
XM_011517026.2:c.479A>T	XP_011515328.1:p.Tyr160Phe
XM_017013400.1:c.617A>T	XP_016868889.1:p.Tyr206Phe
NM_004519.4:c.839A>T MANE Select	NP_004510.1:p.Tyr280Phe
NM_001204824.2:c.479A>T	NP_001191753.1:p.Tyr160Phe