Canonical Allele Identifier: CA417358390

Gene: KCNQ4

Linked Data

• MyVariant Identifiers: chr1:g.41304156G>C (hg19)

Genomic Alleles

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

Transcript Alleles

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