Canonical Allele Identifier: CA847634586

Gene: KCNQ3

Linked Data

• dbSNP Id: rs1257902461
• gnomAD v4: 8-132175308-A-T
• MyVariant Identifiers: chr8:g.133187555A>T (hg19) ; chr8:g.132175308A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175308A>T , CM000670.2:g.132175308A>T	GRCh38
NC_000008.10:g.133187555A>T , CM000670.1:g.133187555A>T	GRCh37
NC_000008.9:g.133256737A>T	NCBI36
NG_008854.2:g.310450T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.933+145T>A MANE Select	ENSP00000373648.3:n.933+145T>A
ENST00000521134.6:c.573+145T>A	ENSP00000429799.1:n.573+145T>A
ENST00000638588.1:c.606+145T>A	ENSP00000491940.1:n.606+145T>A
ENST00000639358.1:c.583+145T>A
ENST00000639496.1:c.606+145T>A	ENSP00000491165.1:n.606+145T>A
ENST00000388996.8:c.933+145T>A	ENSP00000373648.3:n.933+145T>A
ENST00000519445.5:c.933+145T>A	ENSP00000428790.1:n.933+145T>A
ENST00000519589.1:n.711+145T>A
ENST00000521134.5:c.573+145T>A	ENSP00000429799.1:n.573+145T>A
ENST00000621976.1:c.570+145T>A	ENSP00000482510.1:n.570+145T>A
NM_001204824.1:c.573+145T>A	NP_001191753.1:n.573+145T>A
NM_004519.3:c.933+145T>A	NP_004510.1:n.933+145T>A
XM_005250914.2:c.-224+145T>A	XP_005250971.1:n.-224+145T>A
XM_006716555.2:c.225+145T>A	XP_006716618.1:n.225+145T>A
XM_011517026.1:c.573+145T>A	XP_011515328.1:n.573+145T>A
XM_005250914.3:c.-224+145T>A	XP_005250971.1:n.-224+145T>A
XM_006716555.3:c.225+145T>A	XP_006716618.1:n.225+145T>A
XM_011517026.2:c.573+145T>A	XP_011515328.1:n.573+145T>A
XM_017013400.1:c.711+145T>A	XP_016868889.1:n.711+145T>A
NM_004519.4:c.933+145T>A MANE Select	NP_004510.1:n.933+145T>A
NM_001204824.2:c.573+145T>A	NP_001191753.1:n.573+145T>A