Canonical Allele Identifier: CA21088641

Gene: KCNQ4

Linked Data

• dbSNP Id: rs982728141
• gnomAD v3: 1-40838383-G-T
• gnomAD v4: 1-40838383-G-T
• MyVariant Identifiers: chr1:g.41304055G>T (hg19) ; chr1:g.40838383G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40838383G>T , CM000663.2:g.40838383G>T	GRCh38
NC_000001.10:g.41304055G>T , CM000663.1:g.41304055G>T	GRCh37
NC_000001.9:g.41076642G>T	NCBI36
NG_008139.1:g.59372G>T
NG_008139.2:g.59372G>T
NG_008139.3:g.59597G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000347132.10:c.1948G>T MANE Select	ENSP00000262916.6:p.Ala650Ser
ENST00000347132.9:c.1948G>T	ENSP00000262916.6:p.Ala650Ser
ENST00000443478.3:c.1529G>T
ENST00000506017.1:n.1267G>T
ENST00000509682.6:c.1786G>T	ENSP00000423756.2:p.Ala596Ser
NM_004700.3:c.1948G>T	NP_004691.2:p.Ala650Ser
NM_172163.2:c.1786G>T	NP_751895.1:p.Ala596Ser
XM_017002792.1:c.931G>T	XP_016858281.1:p.Ala311Ser
NM_004700.4:c.1948G>T MANE Select	NP_004691.2:p.Ala650Ser
NM_172163.3:c.1786G>T	NP_751895.1:p.Ala596Ser