Canonical Allele Identifier: CA339890734

Gene: KCNQ4

Linked Data

• COSMIC: COSM4694680
• MyVariant Identifiers: chr1:g.41304047G>T (hg19) ; chr1:g.40838375G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40838375G>T , CM000663.2:g.40838375G>T	GRCh38
NC_000001.10:g.41304047G>T , CM000663.1:g.41304047G>T	GRCh37
NC_000001.9:g.41076634G>T	NCBI36
NG_008139.1:g.59364G>T
NG_008139.2:g.59364G>T
NG_008139.3:g.59589G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1940G>T MANE Select	ENSP00000262916.6:p.Gly647Val
ENST00000347132.9:c.1940G>T	ENSP00000262916.6:p.Gly647Val
ENST00000443478.3:c.1521G>T
ENST00000506017.1:n.1259G>T
ENST00000509682.6:c.1778G>T	ENSP00000423756.2:p.Gly593Val
NM_004700.3:c.1940G>T	NP_004691.2:p.Gly647Val
NM_172163.2:c.1778G>T	NP_751895.1:p.Gly593Val
XM_017002792.1:c.923G>T	XP_016858281.1:p.Gly308Val
NM_004700.4:c.1940G>T MANE Select	NP_004691.2:p.Gly647Val
NM_172163.3:c.1778G>T	NP_751895.1:p.Gly593Val