Canonical Allele Identifier: CA21088745

Gene: KCNQ4

Linked Data

• dbSNP Id: rs367871533
• gnomAD v4: 1-40838475-C-T
• MyVariant Identifiers: chr1:g.41304147C>T (hg19) ; chr1:g.40838475C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40838475C>T , CM000663.2:g.40838475C>T	GRCh38
NC_000001.10:g.41304147C>T , CM000663.1:g.41304147C>T	GRCh37
NC_000001.9:g.41076734C>T	NCBI36
NG_008139.1:g.59464C>T
NG_008139.2:g.59464C>T
NG_008139.3:g.59689C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.2040C>T MANE Select	ENSP00000262916.6:p.Ser680=
ENST00000347132.9:c.2040C>T	ENSP00000262916.6:p.Ser680=
ENST00000443478.3:c.1621C>T
ENST00000506017.1:n.1359C>T
ENST00000509682.6:c.1878C>T	ENSP00000423756.2:p.Ser626=
NM_004700.3:c.2040C>T	NP_004691.2:p.Ser680=
NM_172163.2:c.1878C>T	NP_751895.1:p.Ser626=
XM_017002792.1:c.1023C>T	XP_016858281.1:p.Ser341=
NM_004700.4:c.2040C>T MANE Select	NP_004691.2:p.Ser680=
NM_172163.3:c.1878C>T	NP_751895.1:p.Ser626=