Canonical Allele Identifier: CA417357776

Gene: KCNQ4

Linked Data

• dbSNP Id: rs1648768249
• MyVariant Identifiers: chr1:g.41300687A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40835015A>G , CM000663.2:g.40835015A>G	GRCh38
NC_000001.10:g.41300687A>G , CM000663.1:g.41300687A>G	GRCh37
NC_000001.9:g.41073274A>G	NCBI36
NG_008139.1:g.56004A>G
NG_008139.2:g.56004A>G
NG_008139.3:g.56229A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000347132.10:c.1662A>G MANE Select	ENSP00000262916.6:p.Arg554=
ENST00000347132.9:c.1662A>G	ENSP00000262916.6:p.Arg554=
ENST00000443478.3:c.1243A>G
ENST00000506017.1:n.981A>G
ENST00000509682.6:c.1500A>G	ENSP00000423756.2:p.Arg500=
NM_004700.3:c.1662A>G	NP_004691.2:p.Arg554=
NM_172163.2:c.1500A>G	NP_751895.1:p.Arg500=
XR_946798.1:n.1684A>G
XR_946799.1:n.1684A>G
XR_946800.1:n.1417A>G
XM_017002792.1:c.645A>G	XP_016858281.1:p.Arg215=
NM_004700.4:c.1662A>G MANE Select	NP_004691.2:p.Arg554=
NM_172163.3:c.1500A>G	NP_751895.1:p.Arg500=