Canonical Allele Identifier: CA16612208

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 405220
• ClinVar RCV Id: RCV000456805
• dbSNP Id: rs531151809
• gnomAD v3: 8-132175526-G-A
• gnomAD v4: 8-132175526-G-A
• MyVariant Identifiers: chr8:g.133187773G>A (hg19) ; chr8:g.132175526G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175526G>A , CM000670.2:g.132175526G>A	GRCh38
NC_000008.10:g.133187773G>A , CM000670.1:g.133187773G>A	GRCh37
NC_000008.9:g.133256955G>A	NCBI36
NG_008854.2:g.310232C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.860C>T MANE Select	ENSP00000373648.3:p.Pro287Leu
ENST00000521134.6:c.500C>T	ENSP00000429799.1:p.Pro167Leu
ENST00000638588.1:c.533C>T	ENSP00000491940.1:p.Pro178Leu
ENST00000639358.1:c.510C>T
ENST00000639496.1:c.533C>T	ENSP00000491165.1:p.Pro178Leu
ENST00000388996.8:c.860C>T	ENSP00000373648.3:p.Pro287Leu
ENST00000519445.5:c.860C>T	ENSP00000428790.1:p.Pro287Leu
ENST00000519589.1:n.638C>T
ENST00000521134.5:c.500C>T	ENSP00000429799.1:p.Pro167Leu
ENST00000621976.1:c.497C>T	ENSP00000482510.1:p.Pro166Leu
NM_001204824.1:c.500C>T	NP_001191753.1:p.Pro167Leu
NM_004519.3:c.860C>T	NP_004510.1:p.Pro287Leu
XM_005250914.2:c.-297C>T	XP_005250971.1:n.-297C>T
XM_006716555.2:c.152C>T	XP_006716618.1:p.Pro51Leu
XM_011517026.1:c.500C>T	XP_011515328.1:p.Pro167Leu
XM_005250914.3:c.-297C>T	XP_005250971.1:n.-297C>T
XM_006716555.3:c.152C>T	XP_006716618.1:p.Pro51Leu
XM_011517026.2:c.500C>T	XP_011515328.1:p.Pro167Leu
XM_017013400.1:c.638C>T	XP_016868889.1:p.Pro213Leu
NM_004519.4:c.860C>T MANE Select	NP_004510.1:p.Pro287Leu
NM_001204824.2:c.500C>T	NP_001191753.1:p.Pro167Leu