Canonical Allele Identifier: CA339890788

Gene: KCNQ4

Linked Data

• gnomAD v4: 1-40838387-G-T
• MyVariant Identifiers: chr1:g.41304059G>T (hg19) ; chr1:g.40838387G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40838387G>T , CM000663.2:g.40838387G>T	GRCh38
NC_000001.10:g.41304059G>T , CM000663.1:g.41304059G>T	GRCh37
NC_000001.9:g.41076646G>T	NCBI36
NG_008139.1:g.59376G>T
NG_008139.2:g.59376G>T
NG_008139.3:g.59601G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000347132.10:c.1952G>T MANE Select	ENSP00000262916.6:p.Ser651Ile
ENST00000347132.9:c.1952G>T	ENSP00000262916.6:p.Ser651Ile
ENST00000443478.3:c.1533G>T
ENST00000506017.1:n.1271G>T
ENST00000509682.6:c.1790G>T	ENSP00000423756.2:p.Ser597Ile
NM_004700.3:c.1952G>T	NP_004691.2:p.Ser651Ile
NM_172163.2:c.1790G>T	NP_751895.1:p.Ser597Ile
XM_017002792.1:c.935G>T	XP_016858281.1:p.Ser312Ile
NM_004700.4:c.1952G>T MANE Select	NP_004691.2:p.Ser651Ile
NM_172163.3:c.1790G>T	NP_751895.1:p.Ser597Ile