Canonical Allele Identifier: CA372290552

Gene: KCNQ3

Linked Data

• MyVariant Identifiers: chr8:g.133187819G>A (hg19) ; chr8:g.132175572G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175572G>A , CM000670.2:g.132175572G>A	GRCh38
NC_000008.10:g.133187819G>A , CM000670.1:g.133187819G>A	GRCh37
NC_000008.9:g.133257001G>A	NCBI36
NG_008854.2:g.310186C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.814C>T MANE Select	ENSP00000373648.3:p.Leu272Phe
ENST00000521134.6:c.454C>T	ENSP00000429799.1:p.Leu152Phe
ENST00000638588.1:c.487C>T	ENSP00000491940.1:p.Leu163Phe
ENST00000639358.1:c.464C>T
ENST00000639496.1:c.487C>T	ENSP00000491165.1:p.Leu163Phe
ENST00000388996.8:c.814C>T	ENSP00000373648.3:p.Leu272Phe
ENST00000519445.5:c.814C>T	ENSP00000428790.1:p.Leu272Phe
ENST00000519589.1:n.592C>T
ENST00000521134.5:c.454C>T	ENSP00000429799.1:p.Leu152Phe
ENST00000621976.1:c.451C>T	ENSP00000482510.1:p.Leu151Phe
NM_001204824.1:c.454C>T	NP_001191753.1:p.Leu152Phe
NM_004519.3:c.814C>T	NP_004510.1:p.Leu272Phe
XM_005250914.2:c.-343C>T	XP_005250971.1:n.-343C>T
XM_006716555.2:c.106C>T	XP_006716618.1:p.Leu36Phe
XM_011517026.1:c.454C>T	XP_011515328.1:p.Leu152Phe
XM_005250914.3:c.-343C>T	XP_005250971.1:n.-343C>T
XM_006716555.3:c.106C>T	XP_006716618.1:p.Leu36Phe
XM_011517026.2:c.454C>T	XP_011515328.1:p.Leu152Phe
XM_017013400.1:c.592C>T	XP_016868889.1:p.Leu198Phe
NM_004519.4:c.814C>T MANE Select	NP_004510.1:p.Leu272Phe
NM_001204824.2:c.454C>T	NP_001191753.1:p.Leu152Phe