Canonical Allele Identifier: CA339890766

Gene: KCNQ4

Linked Data

• dbSNP Id: rs1262477201
• gnomAD v2: 1-41304053-C-T
• gnomAD v4: 1-40838381-C-T
• COSMIC: COSM3489619
• MyVariant Identifiers: chr1:g.41304053C>T (hg19) ; chr1:g.40838381C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40838381C>T , CM000663.2:g.40838381C>T	GRCh38
NC_000001.10:g.41304053C>T , CM000663.1:g.41304053C>T	GRCh37
NC_000001.9:g.41076640C>T	NCBI36
NG_008139.1:g.59370C>T
NG_008139.2:g.59370C>T
NG_008139.3:g.59595C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1946C>T MANE Select	ENSP00000262916.6:p.Ser649Leu
ENST00000347132.9:c.1946C>T	ENSP00000262916.6:p.Ser649Leu
ENST00000443478.3:c.1527C>T
ENST00000506017.1:n.1265C>T
ENST00000509682.6:c.1784C>T	ENSP00000423756.2:p.Ser595Leu
NM_004700.3:c.1946C>T	NP_004691.2:p.Ser649Leu
NM_172163.2:c.1784C>T	NP_751895.1:p.Ser595Leu
XM_017002792.1:c.929C>T	XP_016858281.1:p.Ser310Leu
NM_004700.4:c.1946C>T MANE Select	NP_004691.2:p.Ser649Leu
NM_172163.3:c.1784C>T	NP_751895.1:p.Ser595Leu