Canonical Allele Identifier: CA735781771

Gene: KCNQ4

Linked Data

• dbSNP Id: rs1221443652
• MyVariant Identifiers: chr1:g.41296387C>T (hg19) ; chr1:g.40830715C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40830715C>T , CM000663.2:g.40830715C>T	GRCh38
NC_000001.10:g.41296387C>T , CM000663.1:g.41296387C>T	GRCh37
NC_000001.9:g.41068974C>T	NCBI36
NG_008139.1:g.51704C>T
NG_008139.2:g.51704C>T
NG_008139.3:g.51929C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.1293-369C>T MANE Select	ENSP00000262916.6:n.1293-369C>T
ENST00000347132.9:c.1293-369C>T	ENSP00000262916.6:n.1293-369C>T
ENST00000443478.3:c.874-369C>T
ENST00000506017.1:n.612-369C>T
ENST00000509682.6:c.1131-369C>T	ENSP00000423756.2:n.1131-369C>T
NM_004700.3:c.1293-369C>T	NP_004691.2:n.1293-369C>T
NM_172163.2:c.1131-369C>T	NP_751895.1:n.1131-369C>T
XM_011542418.1:c.1233C>T	XP_011540720.1:p.Thr411=
XR_946798.1:n.1299-369C>T
XR_946799.1:n.1299-369C>T
XR_946800.1:n.1048-369C>T
XM_017002792.1:c.276-369C>T	XP_016858281.1:n.276-369C>T
NM_004700.4:c.1293-369C>T MANE Select	NP_004691.2:n.1293-369C>T
NM_172163.3:c.1131-369C>T	NP_751895.1:n.1131-369C>T