Canonical Allele Identifier: CA339891536

Gene: KCNQ4

Linked Data

• gnomAD v4: 1-40838483-C-G
• MyVariant Identifiers: chr1:g.41304155C>G (hg19) ; chr1:g.40838483C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40838483C>G , CM000663.2:g.40838483C>G	GRCh38
NC_000001.10:g.41304155C>G , CM000663.1:g.41304155C>G	GRCh37
NC_000001.9:g.41076742C>G	NCBI36
NG_008139.1:g.59472C>G
NG_008139.2:g.59472C>G
NG_008139.3:g.59697C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.2048C>G MANE Select	ENSP00000262916.6:p.Thr683Arg
ENST00000347132.9:c.2048C>G	ENSP00000262916.6:p.Thr683Arg
ENST00000443478.3:c.1629C>G
ENST00000506017.1:n.1367C>G
ENST00000509682.6:c.1886C>G	ENSP00000423756.2:p.Thr629Arg
NM_004700.3:c.2048C>G	NP_004691.2:p.Thr683Arg
NM_172163.2:c.1886C>G	NP_751895.1:p.Thr629Arg
XM_017002792.1:c.1031C>G	XP_016858281.1:p.Thr344Arg
NM_004700.4:c.2048C>G MANE Select	NP_004691.2:p.Thr683Arg
NM_172163.3:c.1886C>G	NP_751895.1:p.Thr629Arg