Canonical Allele Identifier: CA339891550

Gene: KCNQ4

Linked Data

• MyVariant Identifiers: chr1:g.41304158T>A (hg19) ; chr1:g.40838486T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40838486T>A , CM000663.2:g.40838486T>A	GRCh38
NC_000001.10:g.41304158T>A , CM000663.1:g.41304158T>A	GRCh37
NC_000001.9:g.41076745T>A	NCBI36
NG_008139.1:g.59475T>A
NG_008139.2:g.59475T>A
NG_008139.3:g.59700T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.2051T>A MANE Select	ENSP00000262916.6:p.Leu684His
ENST00000347132.9:c.2051T>A	ENSP00000262916.6:p.Leu684His
ENST00000443478.3:c.1632T>A
ENST00000506017.1:n.1370T>A
ENST00000509682.6:c.1889T>A	ENSP00000423756.2:p.Leu630His
NM_004700.3:c.2051T>A	NP_004691.2:p.Leu684His
NM_172163.2:c.1889T>A	NP_751895.1:p.Leu630His
XM_017002792.1:c.1034T>A	XP_016858281.1:p.Leu345His
NM_004700.4:c.2051T>A MANE Select	NP_004691.2:p.Leu684His
NM_172163.3:c.1889T>A	NP_751895.1:p.Leu630His