Canonical Allele Identifier: CA21088746

Gene: KCNQ4

Linked Data

• dbSNP Id: rs931749137
• gnomAD v2: 1-41304155-C-A
• gnomAD v4: 1-40838483-C-A
• MyVariant Identifiers: chr1:g.41304155C>A (hg19) ; chr1:g.40838483C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000347132.10:c.2048C>A MANE Select	ENSP00000262916.6:p.Thr683Lys
ENST00000347132.9:c.2048C>A	ENSP00000262916.6:p.Thr683Lys
ENST00000443478.3:c.1629C>A
ENST00000506017.1:n.1367C>A
ENST00000509682.6:c.1886C>A	ENSP00000423756.2:p.Thr629Lys
NM_004700.3:c.2048C>A	NP_004691.2:p.Thr683Lys
NM_172163.2:c.1886C>A	NP_751895.1:p.Thr629Lys
XM_017002792.1:c.1031C>A	XP_016858281.1:p.Thr344Lys
NM_004700.4:c.2048C>A MANE Select	NP_004691.2:p.Thr683Lys
NM_172163.3:c.1886C>A	NP_751895.1:p.Thr629Lys