Canonical Allele Identifier: CA1164549958

Gene: KCNQ4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40830860_40830867delinsTGTGGGTG , CM000663.2:g.40830860_40830867delinsTGTGGGTG	GRCh38
NC_000001.10:g.41296532_41296539delinsTGTGGGTG , CM000663.1:g.41296532_41296539delinsTGTGGGTG	GRCh37
NC_000001.9:g.41069119_41069126delinsTGTGGGTG	NCBI36
NG_008139.1:g.51849_51856delinsTGTGGGTG
NG_008139.2:g.51849_51856delinsTGTGGGTG
NG_008139.3:g.52074_52081delinsTGTGGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1293-224_1293-217delinsTGTGGGTG MANE Select	ENSP00000262916.6:n.1293-224_1293-217delinsTGTGGGTG
ENST00000347132.9:c.1293-224_1293-217delinsTGTGGGTG	ENSP00000262916.6:n.1293-224_1293-217delinsTGTGGGTG
ENST00000443478.3:c.874-224_874-217delinsTGTGGGTG
ENST00000506017.1:n.612-224_612-217delinsTGTGGGTG
ENST00000509682.6:c.1131-224_1131-217delinsTGTGGGTG	ENSP00000423756.2:n.1131-224_1131-217delinsTGTGGGTG
NM_004700.3:c.1293-224_1293-217delinsTGTGGGTG	NP_004691.2:n.1293-224_1293-217delinsTGTGGGTG
NM_172163.2:c.1131-224_1131-217delinsTGTGGGTG	NP_751895.1:n.1131-224_1131-217delinsTGTGGGTG
XM_011542418.1:c.*13_*20delinsTGTGGGTG	XP_011540720.1:n.*13_*20delinsTGTGGGTG
XR_946798.1:n.1299-224_1299-217delinsTGTGGGTG
XR_946799.1:n.1299-224_1299-217delinsTGTGGGTG
XR_946800.1:n.1048-224_1048-217delinsTGTGGGTG
XM_017002792.1:c.276-224_276-217delinsTGTGGGTG	XP_016858281.1:n.276-224_276-217delinsTGTGGGTG
NM_004700.4:c.1293-224_1293-217delinsTGTGGGTG MANE Select	NP_004691.2:n.1293-224_1293-217delinsTGTGGGTG
NM_172163.3:c.1131-224_1131-217delinsTGTGGGTG	NP_751895.1:n.1131-224_1131-217delinsTGTGGGTG