Canonical Allele Identifier: CA339895577

Gene: KCNQ4

Linked Data

• ClinVar Variation Id: 1308735
• ClinVar RCV Id: RCV001754623
• dbSNP Id: rs80358275
• gnomAD v4: 1-40819423-A-G
• MyVariant Identifiers: chr1:g.41285095A>G (hg19) ; chr1:g.40819423A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40819423A>G , CM000663.2:g.40819423A>G	GRCh38
NC_000001.10:g.41285095A>G , CM000663.1:g.41285095A>G	GRCh37
NC_000001.9:g.41057682A>G	NCBI36
NG_008139.1:g.40412A>G
NG_008139.2:g.40412A>G
NG_008139.3:g.40637A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000347132.10:c.785A>G MANE Select	ENSP00000262916.6:p.Asp262Gly
ENST00000347132.9:c.785A>G	ENSP00000262916.6:p.Asp262Gly
ENST00000443478.3:c.471A>G
ENST00000506017.1:n.104A>G
ENST00000509682.6:c.785A>G	ENSP00000423756.2:p.Asp262Gly
NM_004700.3:c.785A>G	NP_004691.2:p.Asp262Gly
NM_172163.2:c.785A>G	NP_751895.1:p.Asp262Gly
XM_011542417.1:c.785A>G	XP_011540719.1:p.Asp262Gly
XM_011542418.1:c.785A>G	XP_011540720.1:p.Asp262Gly
XM_011542419.1:c.785A>G	XP_011540721.1:p.Asp262Gly
XM_011542420.1:c.785A>G	XP_011540722.1:p.Asp262Gly
XR_946798.1:n.791A>G
XR_946799.1:n.791A>G
XR_946800.1:n.791A>G
XM_017002792.1:c.-233A>G	XP_016858281.1:n.-233A>G
NM_004700.4:c.785A>G MANE Select	NP_004691.2:p.Asp262Gly
NM_172163.3:c.785A>G	NP_751895.1:p.Asp262Gly