Canonical Allele Identifier: CA339888168

Gene: KCNQ4

Linked Data

• MyVariant Identifiers: chr1:g.41300686G>T (hg19) ; chr1:g.40835014G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40835014G>T , CM000663.2:g.40835014G>T	GRCh38
NC_000001.10:g.41300686G>T , CM000663.1:g.41300686G>T	GRCh37
NC_000001.9:g.41073273G>T	NCBI36
NG_008139.1:g.56003G>T
NG_008139.2:g.56003G>T
NG_008139.3:g.56228G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000347132.10:c.1661G>T MANE Select	ENSP00000262916.6:p.Arg554Leu
ENST00000347132.9:c.1661G>T	ENSP00000262916.6:p.Arg554Leu
ENST00000443478.3:c.1242G>T
ENST00000506017.1:n.980G>T
ENST00000509682.6:c.1499G>T	ENSP00000423756.2:p.Arg500Leu
NM_004700.3:c.1661G>T	NP_004691.2:p.Arg554Leu
NM_172163.2:c.1499G>T	NP_751895.1:p.Arg500Leu
XR_946798.1:n.1683G>T
XR_946799.1:n.1683G>T
XR_946800.1:n.1416G>T
XM_017002792.1:c.644G>T	XP_016858281.1:p.Arg215Leu
NM_004700.4:c.1661G>T MANE Select	NP_004691.2:p.Arg554Leu
NM_172163.3:c.1499G>T	NP_751895.1:p.Arg500Leu