Canonical Allele Identifier: CA795061

Gene: KCNQ4

Linked Data

• dbSNP Id: rs775485850
• ExAC: 1:41304156 G / A
• gnomAD v2: 1-41304156-G-A
• gnomAD v4: 1-40838484-G-A
• MyVariant Identifiers: chr1:g.41304156G>A (hg19) ; chr1:g.40838484G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40838484G>A , CM000663.2:g.40838484G>A	GRCh38
NC_000001.10:g.41304156G>A , CM000663.1:g.41304156G>A	GRCh37
NC_000001.9:g.41076743G>A	NCBI36
NG_008139.1:g.59473G>A
NG_008139.2:g.59473G>A
NG_008139.3:g.59698G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000347132.10:c.2049G>A MANE Select	ENSP00000262916.6:p.Thr683=
ENST00000347132.9:c.2049G>A	ENSP00000262916.6:p.Thr683=
ENST00000443478.3:c.1630G>A
ENST00000506017.1:n.1368G>A
ENST00000509682.6:c.1887G>A	ENSP00000423756.2:p.Thr629=
NM_004700.3:c.2049G>A	NP_004691.2:p.Thr683=
NM_172163.2:c.1887G>A	NP_751895.1:p.Thr629=
XM_017002792.1:c.1032G>A	XP_016858281.1:p.Thr344=
NM_004700.4:c.2049G>A MANE Select	NP_004691.2:p.Thr683=
NM_172163.3:c.1887G>A	NP_751895.1:p.Thr629=