Canonical Allele Identifier: CA372290462

Gene: KCNQ3

Linked Data

• MyVariant Identifiers: chr8:g.133187777C>G (hg19) ; chr8:g.132175530C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175530C>G , CM000670.2:g.132175530C>G	GRCh38
NC_000008.10:g.133187777C>G , CM000670.1:g.133187777C>G	GRCh37
NC_000008.9:g.133256959C>G	NCBI36
NG_008854.2:g.310228G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.856G>C MANE Select	ENSP00000373648.3:p.Val286Leu
ENST00000521134.6:c.496G>C	ENSP00000429799.1:p.Val166Leu
ENST00000638588.1:c.529G>C	ENSP00000491940.1:p.Val177Leu
ENST00000639358.1:c.506G>C
ENST00000639496.1:c.529G>C	ENSP00000491165.1:p.Val177Leu
ENST00000388996.8:c.856G>C	ENSP00000373648.3:p.Val286Leu
ENST00000519445.5:c.856G>C	ENSP00000428790.1:p.Val286Leu
ENST00000519589.1:n.634G>C
ENST00000521134.5:c.496G>C	ENSP00000429799.1:p.Val166Leu
ENST00000621976.1:c.493G>C	ENSP00000482510.1:p.Val165Leu
NM_001204824.1:c.496G>C	NP_001191753.1:p.Val166Leu
NM_004519.3:c.856G>C	NP_004510.1:p.Val286Leu
XM_005250914.2:c.-301G>C	XP_005250971.1:n.-301G>C
XM_006716555.2:c.148G>C	XP_006716618.1:p.Val50Leu
XM_011517026.1:c.496G>C	XP_011515328.1:p.Val166Leu
XM_005250914.3:c.-301G>C	XP_005250971.1:n.-301G>C
XM_006716555.3:c.148G>C	XP_006716618.1:p.Val50Leu
XM_011517026.2:c.496G>C	XP_011515328.1:p.Val166Leu
XM_017013400.1:c.634G>C	XP_016868889.1:p.Val212Leu
NM_004519.4:c.856G>C MANE Select	NP_004510.1:p.Val286Leu
NM_001204824.2:c.496G>C	NP_001191753.1:p.Val166Leu