Canonical Allele Identifier: CA2580849542
Gene: KCNQ3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.132175339C>G , CM000670.2:g.132175339C>G GRCh38
NC_000008.10:g.133187586C>G , CM000670.1:g.133187586C>G GRCh37
NC_000008.9:g.133256768C>G NCBI36
NG_008854.2:g.310419G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000388996.10:c.933+114G>C MANE Select ENSP00000373648.3:n.933+114G>C
ENST00000521134.6:c.573+114G>C ENSP00000429799.1:n.573+114G>C
ENST00000638588.1:c.606+114G>C ENSP00000491940.1:n.606+114G>C
ENST00000639358.1:c.583+114G>C
ENST00000639496.1:c.606+114G>C ENSP00000491165.1:n.606+114G>C
ENST00000388996.8:c.933+114G>C ENSP00000373648.3:n.933+114G>C
ENST00000519445.5:c.933+114G>C ENSP00000428790.1:n.933+114G>C
ENST00000519589.1:n.711+114G>C
ENST00000521134.5:c.573+114G>C ENSP00000429799.1:n.573+114G>C
ENST00000621976.1:c.570+114G>C ENSP00000482510.1:n.570+114G>C
NM_001204824.1:c.573+114G>C NP_001191753.1:n.573+114G>C
NM_004519.3:c.933+114G>C NP_004510.1:n.933+114G>C
XM_005250914.2:c.-224+114G>C XP_005250971.1:n.-224+114G>C
XM_006716555.2:c.225+114G>C XP_006716618.1:n.225+114G>C
XM_011517026.1:c.573+114G>C XP_011515328.1:n.573+114G>C
XM_005250914.3:c.-224+114G>C XP_005250971.1:n.-224+114G>C
XM_006716555.3:c.225+114G>C XP_006716618.1:n.225+114G>C
XM_011517026.2:c.573+114G>C XP_011515328.1:n.573+114G>C
XM_017013400.1:c.711+114G>C XP_016868889.1:n.711+114G>C
NM_004519.4:c.933+114G>C MANE Select NP_004510.1:n.933+114G>C
NM_001204824.2:c.573+114G>C NP_001191753.1:n.573+114G>C