Canonical Allele Identifier: CA347395

Gene: KCNQ4

Linked Data

• ClinVar Variation Id: 208368
• ClinVar RCV Id: RCV000655879
• dbSNP Id: rs797044968
• MyVariant Identifiers: chr1:g.41285133T>C (hg19) ; chr1:g.40819461T>C (hg38)
• PubMed: PMID:20301388 ; PMID:25116015

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40819461T>C , CM000663.2:g.40819461T>C	GRCh38
NC_000001.10:g.41285133T>C , CM000663.1:g.41285133T>C	GRCh37
NC_000001.9:g.41057720T>C	NCBI36
NG_008139.1:g.40450T>C
NG_008139.2:g.40450T>C
NG_008139.3:g.40675T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000347132.10:c.823T>C MANE Select	ENSP00000262916.6:p.Trp275Arg
ENST00000347132.9:c.823T>C	ENSP00000262916.6:p.Trp275Arg
ENST00000443478.3:c.509T>C
ENST00000506017.1:n.142T>C
ENST00000509682.6:c.823T>C	ENSP00000423756.2:p.Trp275Arg
NM_004700.3:c.823T>C	NP_004691.2:p.Trp275Arg
NM_172163.2:c.823T>C	NP_751895.1:p.Trp275Arg
XM_011542417.1:c.823T>C	XP_011540719.1:p.Trp275Arg
XM_011542418.1:c.823T>C	XP_011540720.1:p.Trp275Arg
XM_011542419.1:c.823T>C	XP_011540721.1:p.Trp275Arg
XM_011542420.1:c.823T>C	XP_011540722.1:p.Trp275Arg
XR_946798.1:n.829T>C
XR_946799.1:n.829T>C
XR_946800.1:n.829T>C
XM_017002792.1:c.-195T>C	XP_016858281.1:n.-195T>C
NM_004700.4:c.823T>C MANE Select	NP_004691.2:p.Trp275Arg
NM_172163.3:c.823T>C	NP_751895.1:p.Trp275Arg