Canonical Allele Identifier: CA372290507

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 1334438
• ClinVar RCV Id: RCV001814623
• dbSNP Id: rs2130134022
• MyVariant Identifiers: chr8:g.133187798C>A (hg19) ; chr8:g.132175551C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175551C>A , CM000670.2:g.132175551C>A	GRCh38
NC_000008.10:g.133187798C>A , CM000670.1:g.133187798C>A	GRCh37
NC_000008.9:g.133256980C>A	NCBI36
NG_008854.2:g.310207G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.835G>T MANE Select	ENSP00000373648.3:p.Val279Phe
ENST00000521134.6:c.475G>T	ENSP00000429799.1:p.Val159Phe
ENST00000638588.1:c.508G>T	ENSP00000491940.1:p.Val170Phe
ENST00000639358.1:c.485G>T
ENST00000639496.1:c.508G>T	ENSP00000491165.1:p.Val170Phe
ENST00000388996.8:c.835G>T	ENSP00000373648.3:p.Val279Phe
ENST00000519445.5:c.835G>T	ENSP00000428790.1:p.Val279Phe
ENST00000519589.1:n.613G>T
ENST00000521134.5:c.475G>T	ENSP00000429799.1:p.Val159Phe
ENST00000621976.1:c.472G>T	ENSP00000482510.1:p.Val158Phe
NM_001204824.1:c.475G>T	NP_001191753.1:p.Val159Phe
NM_004519.3:c.835G>T	NP_004510.1:p.Val279Phe
XM_005250914.2:c.-322G>T	XP_005250971.1:n.-322G>T
XM_006716555.2:c.127G>T	XP_006716618.1:p.Val43Phe
XM_011517026.1:c.475G>T	XP_011515328.1:p.Val159Phe
XM_005250914.3:c.-322G>T	XP_005250971.1:n.-322G>T
XM_006716555.3:c.127G>T	XP_006716618.1:p.Val43Phe
XM_011517026.2:c.475G>T	XP_011515328.1:p.Val159Phe
XM_017013400.1:c.613G>T	XP_016868889.1:p.Val205Phe
NM_004519.4:c.835G>T MANE Select	NP_004510.1:p.Val279Phe
NM_001204824.2:c.475G>T	NP_001191753.1:p.Val159Phe