Canonical Allele Identifier: CA186223504

Gene: KCNQ3

Linked Data

• dbSNP Id: rs117555278
• gnomAD v2: 8-133188080-G-A
• gnomAD v3: 8-132175833-G-A
• gnomAD v4: 8-132175833-G-A
• MyVariant Identifiers: chr8:g.133188080G>A (hg19) ; chr8:g.132175833G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175833G>A , CM000670.2:g.132175833G>A	GRCh38
NC_000008.10:g.133188080G>A , CM000670.1:g.133188080G>A	GRCh37
NC_000008.9:g.133257262G>A	NCBI36
NG_008854.2:g.309925C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388996.10:c.778-225C>T MANE Select	ENSP00000373648.3:n.778-225C>T
ENST00000521134.6:c.418-225C>T	ENSP00000429799.1:n.418-225C>T
ENST00000638588.1:c.451-225C>T	ENSP00000491940.1:n.451-225C>T
ENST00000639358.1:c.428-225C>T
ENST00000639496.1:c.451-225C>T	ENSP00000491165.1:n.451-225C>T
ENST00000388996.8:c.778-225C>T	ENSP00000373648.3:n.778-225C>T
ENST00000519445.5:c.778-225C>T	ENSP00000428790.1:n.778-225C>T
ENST00000519589.1:n.556-225C>T
ENST00000521134.5:c.418-225C>T	ENSP00000429799.1:n.418-225C>T
ENST00000621976.1:c.415-225C>T	ENSP00000482510.1:n.415-225C>T
NM_001204824.1:c.418-225C>T	NP_001191753.1:n.418-225C>T
NM_004519.3:c.778-225C>T	NP_004510.1:n.778-225C>T
XM_005250914.2:c.-379-225C>T	XP_005250971.1:n.-379-225C>T
XM_006716555.2:c.70-225C>T	XP_006716618.1:n.70-225C>T
XM_011517026.1:c.418-225C>T	XP_011515328.1:n.418-225C>T
XM_005250914.3:c.-379-225C>T	XP_005250971.1:n.-379-225C>T
XM_006716555.3:c.70-225C>T	XP_006716618.1:n.70-225C>T
XM_011517026.2:c.418-225C>T	XP_011515328.1:n.418-225C>T
XM_017013400.1:c.556-225C>T	XP_016868889.1:n.556-225C>T
NM_004519.4:c.778-225C>T MANE Select	NP_004510.1:n.778-225C>T
NM_001204824.2:c.418-225C>T	NP_001191753.1:n.418-225C>T