Canonical Allele Identifier: CA1164553131

Gene: KCNQ4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40838476_40838477delinsGC , CM000663.2:g.40838476_40838477delinsGC	GRCh38
NC_000001.10:g.41304148_41304149delinsGC , CM000663.1:g.41304148_41304149delinsGC	GRCh37
NC_000001.9:g.41076735_41076736delinsGC	NCBI36
NG_008139.1:g.59465_59466delinsGC
NG_008139.2:g.59465_59466delinsGC
NG_008139.3:g.59690_59691delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000347132.10:c.2041_2042delinsGC MANE Select	ENSP00000262916.6:p.Ala681=
ENST00000347132.9:c.2041_2042delinsGC	ENSP00000262916.6:p.Ala681=
ENST00000443478.3:c.1622_1623delinsGC
ENST00000506017.1:n.1360_1361delinsGC
ENST00000509682.6:c.1879_1880delinsGC	ENSP00000423756.2:p.Ala627=
NM_004700.3:c.2041_2042delinsGC	NP_004691.2:p.Ala681=
NM_172163.2:c.1879_1880delinsGC	NP_751895.1:p.Ala627=
XM_017002792.1:c.1024_1025delinsGC	XP_016858281.1:p.Ala342=
NM_004700.4:c.2041_2042delinsGC MANE Select	NP_004691.2:p.Ala681=
NM_172163.3:c.1879_1880delinsGC	NP_751895.1:p.Ala627=