Canonical Allele Identifier: CA417357772

Gene: KCNQ4

Linked Data

• MyVariant Identifiers: chr1:g.41300685C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40835013C>A , CM000663.2:g.40835013C>A	GRCh38
NC_000001.10:g.41300685C>A , CM000663.1:g.41300685C>A	GRCh37
NC_000001.9:g.41073272C>A	NCBI36
NG_008139.1:g.56002C>A
NG_008139.2:g.56002C>A
NG_008139.3:g.56227C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1660C>A MANE Select	ENSP00000262916.6:p.Arg554=
ENST00000347132.9:c.1660C>A	ENSP00000262916.6:p.Arg554=
ENST00000443478.3:c.1241C>A
ENST00000506017.1:n.979C>A
ENST00000509682.6:c.1498C>A	ENSP00000423756.2:p.Arg500=
NM_004700.3:c.1660C>A	NP_004691.2:p.Arg554=
NM_172163.2:c.1498C>A	NP_751895.1:p.Arg500=
XR_946798.1:n.1682C>A
XR_946799.1:n.1682C>A
XR_946800.1:n.1415C>A
XM_017002792.1:c.643C>A	XP_016858281.1:p.Arg215=
NM_004700.4:c.1660C>A MANE Select	NP_004691.2:p.Arg554=
NM_172163.3:c.1498C>A	NP_751895.1:p.Arg500=