Canonical Allele Identifier: CA372290338

Gene: KCNQ3

Linked Data

• MyVariant Identifiers: chr8:g.133187723C>A (hg19) ; chr8:g.132175476C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175476C>A , CM000670.2:g.132175476C>A	GRCh38
NC_000008.10:g.133187723C>A , CM000670.1:g.133187723C>A	GRCh37
NC_000008.9:g.133256905C>A	NCBI36
NG_008854.2:g.310282G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.910G>T MANE Select	ENSP00000373648.3:p.Ala304Ser
ENST00000521134.6:c.550G>T	ENSP00000429799.1:p.Ala184Ser
ENST00000638588.1:c.583G>T	ENSP00000491940.1:p.Ala195Ser
ENST00000639358.1:c.560G>T
ENST00000639496.1:c.583G>T	ENSP00000491165.1:p.Ala195Ser
ENST00000388996.8:c.910G>T	ENSP00000373648.3:p.Ala304Ser
ENST00000519445.5:c.910G>T	ENSP00000428790.1:p.Ala304Ser
ENST00000519589.1:n.688G>T
ENST00000521134.5:c.550G>T	ENSP00000429799.1:p.Ala184Ser
ENST00000621976.1:c.547G>T	ENSP00000482510.1:p.Ala183Ser
NM_001204824.1:c.550G>T	NP_001191753.1:p.Ala184Ser
NM_004519.3:c.910G>T	NP_004510.1:p.Ala304Ser
XM_005250914.2:c.-247G>T	XP_005250971.1:n.-247G>T
XM_006716555.2:c.202G>T	XP_006716618.1:p.Ala68Ser
XM_011517026.1:c.550G>T	XP_011515328.1:p.Ala184Ser
XM_005250914.3:c.-247G>T	XP_005250971.1:n.-247G>T
XM_006716555.3:c.202G>T	XP_006716618.1:p.Ala68Ser
XM_011517026.2:c.550G>T	XP_011515328.1:p.Ala184Ser
XM_017013400.1:c.688G>T	XP_016868889.1:p.Ala230Ser
NM_004519.4:c.910G>T MANE Select	NP_004510.1:p.Ala304Ser
NM_001204824.2:c.550G>T	NP_001191753.1:p.Ala184Ser