Canonical Allele Identifier: CA372290394

Gene: KCNQ3

Linked Data

• ClinVar Variation Id: 2786931
• ClinVar RCV Id: RCV003748641
• dbSNP Id: rs1172039592
• gnomAD v2: 8-133187745-C-T
• gnomAD v4: 8-132175498-C-T
• MyVariant Identifiers: chr8:g.133187745C>T (hg19) ; chr8:g.132175498C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175498C>T , CM000670.2:g.132175498C>T	GRCh38
NC_000008.10:g.133187745C>T , CM000670.1:g.133187745C>T	GRCh37
NC_000008.9:g.133256927C>T	NCBI36
NG_008854.2:g.310260G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000388996.10:c.888G>A MANE Select	ENSP00000373648.3:p.Met296Ile
ENST00000521134.6:c.528G>A	ENSP00000429799.1:p.Met176Ile
ENST00000638588.1:c.561G>A	ENSP00000491940.1:p.Met187Ile
ENST00000639358.1:c.538G>A
ENST00000639496.1:c.561G>A	ENSP00000491165.1:p.Met187Ile
ENST00000388996.8:c.888G>A	ENSP00000373648.3:p.Met296Ile
ENST00000519445.5:c.888G>A	ENSP00000428790.1:p.Met296Ile
ENST00000519589.1:n.666G>A
ENST00000521134.5:c.528G>A	ENSP00000429799.1:p.Met176Ile
ENST00000621976.1:c.525G>A	ENSP00000482510.1:p.Met175Ile
NM_001204824.1:c.528G>A	NP_001191753.1:p.Met176Ile
NM_004519.3:c.888G>A	NP_004510.1:p.Met296Ile
XM_005250914.2:c.-269G>A	XP_005250971.1:n.-269G>A
XM_006716555.2:c.180G>A	XP_006716618.1:p.Met60Ile
XM_011517026.1:c.528G>A	XP_011515328.1:p.Met176Ile
XM_005250914.3:c.-269G>A	XP_005250971.1:n.-269G>A
XM_006716555.3:c.180G>A	XP_006716618.1:p.Met60Ile
XM_011517026.2:c.528G>A	XP_011515328.1:p.Met176Ile
XM_017013400.1:c.666G>A	XP_016868889.1:p.Met222Ile
NM_004519.4:c.888G>A MANE Select	NP_004510.1:p.Met296Ile
NM_001204824.2:c.528G>A	NP_001191753.1:p.Met176Ile