Canonical Allele Identifier: CA463070343

Gene: KCNQ3

Linked Data

• MyVariant Identifiers: chr8:g.133187700C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175453C>A , CM000670.2:g.132175453C>A	GRCh38
NC_000008.10:g.133187700C>A , CM000670.1:g.133187700C>A	GRCh37
NC_000008.9:g.133256882C>A	NCBI36
NG_008854.2:g.310305G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.933G>T MANE Select	ENSP00000373648.3:p.Leu311=
ENST00000521134.6:c.573G>T	ENSP00000429799.1:p.Leu191=
ENST00000638588.1:c.606G>T	ENSP00000491940.1:p.Leu202=
ENST00000639358.1:c.583G>T
ENST00000639496.1:c.606G>T	ENSP00000491165.1:p.Leu202=
ENST00000388996.8:c.933G>T	ENSP00000373648.3:p.Leu311=
ENST00000519445.5:c.933G>T	ENSP00000428790.1:p.Leu311=
ENST00000519589.1:n.711G>T
ENST00000521134.5:c.573G>T	ENSP00000429799.1:p.Leu191=
ENST00000621976.1:c.570G>T	ENSP00000482510.1:p.Leu190=
NM_001204824.1:c.573G>T	NP_001191753.1:p.Leu191=
NM_004519.3:c.933G>T	NP_004510.1:p.Leu311=
XM_005250914.2:c.-224G>T	XP_005250971.1:n.-224G>T
XM_006716555.2:c.225G>T	XP_006716618.1:p.Leu75=
XM_011517026.1:c.573G>T	XP_011515328.1:p.Leu191=
XM_005250914.3:c.-224G>T	XP_005250971.1:n.-224G>T
XM_006716555.3:c.225G>T	XP_006716618.1:p.Leu75=
XM_011517026.2:c.573G>T	XP_011515328.1:p.Leu191=
XM_017013400.1:c.711G>T	XP_016868889.1:p.Leu237=
NM_004519.4:c.933G>T MANE Select	NP_004510.1:p.Leu311=
NM_001204824.2:c.573G>T	NP_001191753.1:p.Leu191=