Canonical Allele Identifier: CA339895409

Gene: KCNQ4

Linked Data

• dbSNP Id: rs1648207078
• MyVariant Identifiers: chr1:g.41285046T>G (hg19) ; chr1:g.40819374T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40819374T>G , CM000663.2:g.40819374T>G	GRCh38
NC_000001.10:g.41285046T>G , CM000663.1:g.41285046T>G	GRCh37
NC_000001.9:g.41057633T>G	NCBI36
NG_008139.1:g.40363T>G
NG_008139.2:g.40363T>G
NG_008139.3:g.40588T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000347132.10:c.736T>G MANE Select	ENSP00000262916.6:p.Phe246Val
ENST00000347132.9:c.736T>G	ENSP00000262916.6:p.Phe246Val
ENST00000443478.3:c.422T>G
ENST00000506017.1:n.55T>G
ENST00000509682.6:c.736T>G	ENSP00000423756.2:p.Phe246Val
NM_004700.3:c.736T>G	NP_004691.2:p.Phe246Val
NM_172163.2:c.736T>G	NP_751895.1:p.Phe246Val
XM_011542417.1:c.736T>G	XP_011540719.1:p.Phe246Val
XM_011542418.1:c.736T>G	XP_011540720.1:p.Phe246Val
XM_011542419.1:c.736T>G	XP_011540721.1:p.Phe246Val
XM_011542420.1:c.736T>G	XP_011540722.1:p.Phe246Val
XR_946798.1:n.742T>G
XR_946799.1:n.742T>G
XR_946800.1:n.742T>G
XM_017002792.1:c.-282T>G	XP_016858281.1:n.-282T>G
NM_004700.4:c.736T>G MANE Select	NP_004691.2:p.Phe246Val
NM_172163.3:c.736T>G	NP_751895.1:p.Phe246Val