Canonical Allele Identifier: CA4880812

Gene: KCNQ3

Linked Data

• dbSNP Id: rs564581537
• ExAC: 8:133187661 G / A
• gnomAD v2: 8-133187661-G-A
• gnomAD v3: 8-132175414-G-A
• gnomAD v4: 8-132175414-G-A
• MyVariant Identifiers: chr8:g.133187661G>A (hg19) ; chr8:g.132175414G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175414G>A , CM000670.2:g.132175414G>A	GRCh38
NC_000008.10:g.133187661G>A , CM000670.1:g.133187661G>A	GRCh37
NC_000008.9:g.133256843G>A	NCBI36
NG_008854.2:g.310344C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000388996.10:c.933+39C>T MANE Select	ENSP00000373648.3:n.933+39C>T
ENST00000521134.6:c.573+39C>T	ENSP00000429799.1:n.573+39C>T
ENST00000638588.1:c.606+39C>T	ENSP00000491940.1:n.606+39C>T
ENST00000639358.1:c.583+39C>T
ENST00000639496.1:c.606+39C>T	ENSP00000491165.1:n.606+39C>T
ENST00000388996.8:c.933+39C>T	ENSP00000373648.3:n.933+39C>T
ENST00000519445.5:c.933+39C>T	ENSP00000428790.1:n.933+39C>T
ENST00000519589.1:n.711+39C>T
ENST00000521134.5:c.573+39C>T	ENSP00000429799.1:n.573+39C>T
ENST00000621976.1:c.570+39C>T	ENSP00000482510.1:n.570+39C>T
NM_001204824.1:c.573+39C>T	NP_001191753.1:n.573+39C>T
NM_004519.3:c.933+39C>T	NP_004510.1:n.933+39C>T
XM_005250914.2:c.-224+39C>T	XP_005250971.1:n.-224+39C>T
XM_006716555.2:c.225+39C>T	XP_006716618.1:n.225+39C>T
XM_011517026.1:c.573+39C>T	XP_011515328.1:n.573+39C>T
XM_005250914.3:c.-224+39C>T	XP_005250971.1:n.-224+39C>T
XM_006716555.3:c.225+39C>T	XP_006716618.1:n.225+39C>T
XM_011517026.2:c.573+39C>T	XP_011515328.1:n.573+39C>T
XM_017013400.1:c.711+39C>T	XP_016868889.1:n.711+39C>T
NM_004519.4:c.933+39C>T MANE Select	NP_004510.1:n.933+39C>T
NM_001204824.2:c.573+39C>T	NP_001191753.1:n.573+39C>T