Canonical Allele Identifier: CA372290431

Gene: KCNQ3

Linked Data

• dbSNP Id: rs1826519341
• gnomAD v3: 8-132175515-C-A
• gnomAD v4: 8-132175515-C-A
• MyVariant Identifiers: chr8:g.133187762C>A (hg19) ; chr8:g.132175515C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175515C>A , CM000670.2:g.132175515C>A	GRCh38
NC_000008.10:g.133187762C>A , CM000670.1:g.133187762C>A	GRCh37
NC_000008.9:g.133256944C>A	NCBI36
NG_008854.2:g.310243G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.871G>T MANE Select	ENSP00000373648.3:p.Ala291Ser
ENST00000521134.6:c.511G>T	ENSP00000429799.1:p.Ala171Ser
ENST00000638588.1:c.544G>T	ENSP00000491940.1:p.Ala182Ser
ENST00000639358.1:c.521G>T
ENST00000639496.1:c.544G>T	ENSP00000491165.1:p.Ala182Ser
ENST00000388996.8:c.871G>T	ENSP00000373648.3:p.Ala291Ser
ENST00000519445.5:c.871G>T	ENSP00000428790.1:p.Ala291Ser
ENST00000519589.1:n.649G>T
ENST00000521134.5:c.511G>T	ENSP00000429799.1:p.Ala171Ser
ENST00000621976.1:c.508G>T	ENSP00000482510.1:p.Ala170Ser
NM_001204824.1:c.511G>T	NP_001191753.1:p.Ala171Ser
NM_004519.3:c.871G>T	NP_004510.1:p.Ala291Ser
XM_005250914.2:c.-286G>T	XP_005250971.1:n.-286G>T
XM_006716555.2:c.163G>T	XP_006716618.1:p.Ala55Ser
XM_011517026.1:c.511G>T	XP_011515328.1:p.Ala171Ser
XM_005250914.3:c.-286G>T	XP_005250971.1:n.-286G>T
XM_006716555.3:c.163G>T	XP_006716618.1:p.Ala55Ser
XM_011517026.2:c.511G>T	XP_011515328.1:p.Ala171Ser
XM_017013400.1:c.649G>T	XP_016868889.1:p.Ala217Ser
NM_004519.4:c.871G>T MANE Select	NP_004510.1:p.Ala291Ser
NM_001204824.2:c.511G>T	NP_001191753.1:p.Ala171Ser