Canonical Allele Identifier: CA339890748

Gene: KCNQ4

Linked Data

• MyVariant Identifiers: chr1:g.41304052T>G (hg19) ; chr1:g.40838380T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40838380T>G , CM000663.2:g.40838380T>G	GRCh38
NC_000001.10:g.41304052T>G , CM000663.1:g.41304052T>G	GRCh37
NC_000001.9:g.41076639T>G	NCBI36
NG_008139.1:g.59369T>G
NG_008139.2:g.59369T>G
NG_008139.3:g.59594T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000347132.10:c.1945T>G MANE Select	ENSP00000262916.6:p.Ser649Ala
ENST00000347132.9:c.1945T>G	ENSP00000262916.6:p.Ser649Ala
ENST00000443478.3:c.1526T>G
ENST00000506017.1:n.1264T>G
ENST00000509682.6:c.1783T>G	ENSP00000423756.2:p.Ser595Ala
NM_004700.3:c.1945T>G	NP_004691.2:p.Ser649Ala
NM_172163.2:c.1783T>G	NP_751895.1:p.Ser595Ala
XM_017002792.1:c.928T>G	XP_016858281.1:p.Ser310Ala
NM_004700.4:c.1945T>G MANE Select	NP_004691.2:p.Ser649Ala
NM_172163.3:c.1783T>G	NP_751895.1:p.Ser595Ala