Canonical Allele Identifier: CA339891542

Gene: KCNQ4

Linked Data

• MyVariant Identifiers: chr1:g.41304157C>A (hg19) ; chr1:g.40838485C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40838485C>A , CM000663.2:g.40838485C>A	GRCh38
NC_000001.10:g.41304157C>A , CM000663.1:g.41304157C>A	GRCh37
NC_000001.9:g.41076744C>A	NCBI36
NG_008139.1:g.59474C>A
NG_008139.2:g.59474C>A
NG_008139.3:g.59699C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000347132.10:c.2050C>A MANE Select	ENSP00000262916.6:p.Leu684Ile
ENST00000347132.9:c.2050C>A	ENSP00000262916.6:p.Leu684Ile
ENST00000443478.3:c.1631C>A
ENST00000506017.1:n.1369C>A
ENST00000509682.6:c.1888C>A	ENSP00000423756.2:p.Leu630Ile
NM_004700.3:c.2050C>A	NP_004691.2:p.Leu684Ile
NM_172163.2:c.1888C>A	NP_751895.1:p.Leu630Ile
XM_017002792.1:c.1033C>A	XP_016858281.1:p.Leu345Ile
NM_004700.4:c.2050C>A MANE Select	NP_004691.2:p.Leu684Ile
NM_172163.3:c.1888C>A	NP_751895.1:p.Leu630Ile