Canonical Allele Identifier: CA794968

Gene: KCNQ4

Linked Data

• dbSNP Id: rs55964611
• ExAC: 1:41300690 G / T
• gnomAD v2: 1-41300690-G-T
• gnomAD v3: 1-40835018-G-T
• gnomAD v4: 1-40835018-G-T
• MyVariant Identifiers: chr1:g.41300690G>T (hg19) ; chr1:g.40835018G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40835018G>T , CM000663.2:g.40835018G>T	GRCh38
NC_000001.10:g.41300690G>T , CM000663.1:g.41300690G>T	GRCh37
NC_000001.9:g.41073277G>T	NCBI36
NG_008139.1:g.56007G>T
NG_008139.2:g.56007G>T
NG_008139.3:g.56232G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000347132.10:c.1665G>T MANE Select	ENSP00000262916.6:p.Pro555=
ENST00000347132.9:c.1665G>T	ENSP00000262916.6:p.Pro555=
ENST00000443478.3:c.1246G>T
ENST00000506017.1:n.984G>T
ENST00000509682.6:c.1503G>T	ENSP00000423756.2:p.Pro501=
NM_004700.3:c.1665G>T	NP_004691.2:p.Pro555=
NM_172163.2:c.1503G>T	NP_751895.1:p.Pro501=
XR_946798.1:n.1687G>T
XR_946799.1:n.1687G>T
XR_946800.1:n.1420G>T
XM_017002792.1:c.648G>T	XP_016858281.1:p.Pro216=
NM_004700.4:c.1665G>T MANE Select	NP_004691.2:p.Pro555=
NM_172163.3:c.1503G>T	NP_751895.1:p.Pro501=