Canonical Allele Identifier: CA135535

Gene: KCNQ4

Linked Data

• ClinVar Variation Id: 45105
• ClinVar RCV Id: RCV000038247 ; RCV000613298 ; RCV001727535
• dbSNP Id: rs4660468
• ExAC: 1:41285087 T / C
• gnomAD v2: 1-41285087-T-C
• gnomAD v3: 1-40819415-T-C
• gnomAD v4: 1-40819415-T-C
• MyVariant Identifiers: chr1:g.41285087T>C (hg19) ; chr1:g.40819415T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40819415T>C , CM000663.2:g.40819415T>C	GRCh38
NC_000001.10:g.41285087T>C , CM000663.1:g.41285087T>C	GRCh37
NC_000001.9:g.41057674T>C	NCBI36
NG_008139.1:g.40404T>C
NG_008139.2:g.40404T>C
NG_008139.3:g.40629T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000347132.10:c.777T>C MANE Select	ENSP00000262916.6:p.Ala259=
ENST00000347132.9:c.777T>C	ENSP00000262916.6:p.Ala259=
ENST00000443478.3:c.463T>C
ENST00000506017.1:n.96T>C
ENST00000509682.6:c.777T>C	ENSP00000423756.2:p.Ala259=
NM_004700.3:c.777T>C	NP_004691.2:p.Ala259=
NM_172163.2:c.777T>C	NP_751895.1:p.Ala259=
XM_011542417.1:c.777T>C	XP_011540719.1:p.Ala259=
XM_011542418.1:c.777T>C	XP_011540720.1:p.Ala259=
XM_011542419.1:c.777T>C	XP_011540721.1:p.Ala259=
XM_011542420.1:c.777T>C	XP_011540722.1:p.Ala259=
XR_946798.1:n.783T>C
XR_946799.1:n.783T>C
XR_946800.1:n.783T>C
XM_017002792.1:c.-241T>C	XP_016858281.1:n.-241T>C
NM_004700.4:c.777T>C MANE Select	NP_004691.2:p.Ala259=
NM_172163.3:c.777T>C	NP_751895.1:p.Ala259=