Canonical Allele Identifier: CA2739272493

Gene: KCNQ4

Linked Data

• ClinVar Variation Id: 2849837
• ClinVar RCV Id: RCV003688013

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40819415_40819416delinsCA , CM000663.2:g.40819415_40819416delinsCA	GRCh38
NC_000001.10:g.41285087_41285088delinsCA , CM000663.1:g.41285087_41285088delinsCA	GRCh37
NC_000001.9:g.41057674_41057675delinsCA	NCBI36
NG_008139.1:g.40404_40405delinsCA
NG_008139.2:g.40404_40405delinsCA
NG_008139.3:g.40629_40630delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.777_778delinsCA MANE Select	ENSP00000262916.6:p.Glu260Lys
ENST00000347132.9:c.777_778delinsCA	ENSP00000262916.6:p.Glu260Lys
ENST00000443478.3:c.463_464delinsCA
ENST00000506017.1:n.96_97delinsCA
ENST00000509682.6:c.777_778delinsCA	ENSP00000423756.2:p.Glu260Lys
NM_004700.3:c.777_778delinsCA	NP_004691.2:p.Glu260Lys
NM_172163.2:c.777_778delinsCA	NP_751895.1:p.Glu260Lys
XM_011542417.1:c.777_778delinsCA	XP_011540719.1:p.Glu260Lys
XM_011542418.1:c.777_778delinsCA	XP_011540720.1:p.Glu260Lys
XM_011542419.1:c.777_778delinsCA	XP_011540721.1:p.Glu260Lys
XM_011542420.1:c.777_778delinsCA	XP_011540722.1:p.Glu260Lys
XR_946798.1:n.783_784delinsCA
XR_946799.1:n.783_784delinsCA
XR_946800.1:n.783_784delinsCA
XM_017002792.1:c.-241_-240delinsCA	XP_016858281.1:n.-241_-240delinsCA
NM_004700.4:c.777_778delinsCA MANE Select	NP_004691.2:p.Glu260Lys
NM_172163.3:c.777_778delinsCA	NP_751895.1:p.Glu260Lys