Canonical Allele Identifier: CA1164531087

Gene: KCNQ4

Linked Data

• ClinVar Variation Id: 2993508
• ClinVar RCV Id: RCV003850603
• dbSNP Id: rs1647180436

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40784137_40784153dup , CM000663.2:g.40784137_40784153dup	GRCh38
NC_000001.10:g.41249809_41249825dup , CM000663.1:g.41249809_41249825dup	GRCh37
NC_000001.9:g.41022396_41022412dup	NCBI36
NG_008139.1:g.5126_5142dup
NG_008139.2:g.5126_5142dup
NG_008139.3:g.5351_5367dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.44_60dup MANE Select	ENSP00000262916.6:p.Ala21ProfsTer9
ENST00000347132.9:c.44_60dup	ENSP00000262916.6:p.Ala21ProfsTer9
ENST00000509682.6:c.44_60dup	ENSP00000423756.2:p.Ala21ProfsTer9
NM_004700.3:c.44_60dup	NP_004691.2:p.Ala21ProfsTer9
NM_172163.2:c.44_60dup	NP_751895.1:p.Ala21ProfsTer9
XM_011542417.1:c.44_60dup	XP_011540719.1:p.Ala21ProfsTer9
XM_011542418.1:c.44_60dup	XP_011540720.1:p.Ala21ProfsTer9
XM_011542419.1:c.44_60dup	XP_011540721.1:p.Ala21ProfsTer9
XM_011542420.1:c.44_60dup	XP_011540722.1:p.Ala21ProfsTer9
XR_946798.1:n.50_66dup
XR_946799.1:n.50_66dup
XR_946800.1:n.50_66dup
NM_004700.4:c.44_60dup MANE Select	NP_004691.2:p.Ala21ProfsTer9
NM_172163.3:c.44_60dup	NP_751895.1:p.Ala21ProfsTer9