Canonical Allele Identifier: CA372290174

Gene: KCNQ3

Linked Data

• gnomAD v4: 8-132174302-C-T
• COSMIC: COSM5525129
• MyVariant Identifiers: chr8:g.133186549C>T (hg19) ; chr8:g.132174302C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132174302C>T , CM000670.2:g.132174302C>T	GRCh38
NC_000008.10:g.133186549C>T , CM000670.1:g.133186549C>T	GRCh37
NC_000008.9:g.133255731C>T	NCBI36
NG_008854.2:g.311456G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000388996.10:c.981G>A MANE Select	ENSP00000373648.3:p.Trp327Ter
ENST00000521134.6:c.621G>A	ENSP00000429799.1:p.Trp207Ter
ENST00000638588.1:c.654G>A	ENSP00000491940.1:p.Trp218Ter
ENST00000639358.1:c.631G>A
ENST00000639496.1:c.654G>A	ENSP00000491165.1:p.Trp218Ter
ENST00000388996.8:c.981G>A	ENSP00000373648.3:p.Trp327Ter
ENST00000519445.5:c.981G>A	ENSP00000428790.1:p.Trp327Ter
ENST00000519589.1:n.759G>A
ENST00000521134.5:c.621G>A	ENSP00000429799.1:p.Trp207Ter
ENST00000621976.1:c.618G>A	ENSP00000482510.1:p.Trp206Ter
NM_001204824.1:c.621G>A	NP_001191753.1:p.Trp207Ter
NM_004519.3:c.981G>A	NP_004510.1:p.Trp327Ter
XM_005250914.2:c.-176G>A	XP_005250971.1:n.-176G>A
XM_006716555.2:c.273G>A	XP_006716618.1:p.Trp91Ter
XM_011517026.1:c.621G>A	XP_011515328.1:p.Trp207Ter
XM_005250914.3:c.-176G>A	XP_005250971.1:n.-176G>A
XM_006716555.3:c.273G>A	XP_006716618.1:p.Trp91Ter
XM_011517026.2:c.621G>A	XP_011515328.1:p.Trp207Ter
XM_017013400.1:c.759G>A	XP_016868889.1:p.Trp253Ter
NM_004519.4:c.981G>A MANE Select	NP_004510.1:p.Trp327Ter
NM_001204824.2:c.621G>A	NP_001191753.1:p.Trp207Ter