Canonical Allele Identifier: CA4880811

Gene: KCNQ3

Linked Data

• dbSNP Id: rs369641564
• ExAC: 8:133187660 A / C
• gnomAD v2: 8-133187660-A-C
• gnomAD v3: 8-132175413-A-C
• gnomAD v4: 8-132175413-A-C
• MyVariant Identifiers: chr8:g.133187660A>C (hg19) ; chr8:g.132175413A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132175413A>C , CM000670.2:g.132175413A>C	GRCh38
NC_000008.10:g.133187660A>C , CM000670.1:g.133187660A>C	GRCh37
NC_000008.9:g.133256842A>C	NCBI36
NG_008854.2:g.310345T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000388996.10:c.933+40T>G MANE Select	ENSP00000373648.3:n.933+40T>G
ENST00000521134.6:c.573+40T>G	ENSP00000429799.1:n.573+40T>G
ENST00000638588.1:c.606+40T>G	ENSP00000491940.1:n.606+40T>G
ENST00000639358.1:c.583+40T>G
ENST00000639496.1:c.606+40T>G	ENSP00000491165.1:n.606+40T>G
ENST00000388996.8:c.933+40T>G	ENSP00000373648.3:n.933+40T>G
ENST00000519445.5:c.933+40T>G	ENSP00000428790.1:n.933+40T>G
ENST00000519589.1:n.711+40T>G
ENST00000521134.5:c.573+40T>G	ENSP00000429799.1:n.573+40T>G
ENST00000621976.1:c.570+40T>G	ENSP00000482510.1:n.570+40T>G
NM_001204824.1:c.573+40T>G	NP_001191753.1:n.573+40T>G
NM_004519.3:c.933+40T>G	NP_004510.1:n.933+40T>G
XM_005250914.2:c.-224+40T>G	XP_005250971.1:n.-224+40T>G
XM_006716555.2:c.225+40T>G	XP_006716618.1:n.225+40T>G
XM_011517026.1:c.573+40T>G	XP_011515328.1:n.573+40T>G
XM_005250914.3:c.-224+40T>G	XP_005250971.1:n.-224+40T>G
XM_006716555.3:c.225+40T>G	XP_006716618.1:n.225+40T>G
XM_011517026.2:c.573+40T>G	XP_011515328.1:n.573+40T>G
XM_017013400.1:c.711+40T>G	XP_016868889.1:n.711+40T>G
NM_004519.4:c.933+40T>G MANE Select	NP_004510.1:n.933+40T>G
NM_001204824.2:c.573+40T>G	NP_001191753.1:n.573+40T>G