Canonical Allele Identifier: CA372290439

Gene: KCNQ3

Linked Data

• MyVariant Identifiers: chr8:g.133187765C>G (hg19) ; chr8:g.132175518C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175518C>G , CM000670.2:g.132175518C>G	GRCh38
NC_000008.10:g.133187765C>G , CM000670.1:g.133187765C>G	GRCh37
NC_000008.9:g.133256947C>G	NCBI36
NG_008854.2:g.310240G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.868G>C MANE Select	ENSP00000373648.3:p.Asp290His
ENST00000521134.6:c.508G>C	ENSP00000429799.1:p.Asp170His
ENST00000638588.1:c.541G>C	ENSP00000491940.1:p.Asp181His
ENST00000639358.1:c.518G>C
ENST00000639496.1:c.541G>C	ENSP00000491165.1:p.Asp181His
ENST00000388996.8:c.868G>C	ENSP00000373648.3:p.Asp290His
ENST00000519445.5:c.868G>C	ENSP00000428790.1:p.Asp290His
ENST00000519589.1:n.646G>C
ENST00000521134.5:c.508G>C	ENSP00000429799.1:p.Asp170His
ENST00000621976.1:c.505G>C	ENSP00000482510.1:p.Asp169His
NM_001204824.1:c.508G>C	NP_001191753.1:p.Asp170His
NM_004519.3:c.868G>C	NP_004510.1:p.Asp290His
XM_005250914.2:c.-289G>C	XP_005250971.1:n.-289G>C
XM_006716555.2:c.160G>C	XP_006716618.1:p.Asp54His
XM_011517026.1:c.508G>C	XP_011515328.1:p.Asp170His
XM_005250914.3:c.-289G>C	XP_005250971.1:n.-289G>C
XM_006716555.3:c.160G>C	XP_006716618.1:p.Asp54His
XM_011517026.2:c.508G>C	XP_011515328.1:p.Asp170His
XM_017013400.1:c.646G>C	XP_016868889.1:p.Asp216His
NM_004519.4:c.868G>C MANE Select	NP_004510.1:p.Asp290His
NM_001204824.2:c.508G>C	NP_001191753.1:p.Asp170His