Canonical Allele Identifier: CA1164549899
Gene: KCNQ4 HGNC NCBI

Linked Data

dbSNP Id: rs1648616644

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40830721C>T , CM000663.2:g.40830721C>T GRCh38
NC_000001.10:g.41296393C>T , CM000663.1:g.41296393C>T GRCh37
NC_000001.9:g.41068980C>T NCBI36
NG_008139.1:g.51710C>T
NG_008139.2:g.51710C>T
NG_008139.3:g.51935C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.1293-363C>T MANE Select ENSP00000262916.6:n.1293-363C>T
ENST00000347132.9:c.1293-363C>T ENSP00000262916.6:n.1293-363C>T
ENST00000443478.3:c.874-363C>T
ENST00000506017.1:n.612-363C>T
ENST00000509682.6:c.1131-363C>T ENSP00000423756.2:n.1131-363C>T
NM_004700.3:c.1293-363C>T NP_004691.2:n.1293-363C>T
NM_172163.2:c.1131-363C>T NP_751895.1:n.1131-363C>T
XM_011542418.1:c.1239C>T XP_011540720.1:p.Thr413=
XR_946798.1:n.1299-363C>T
XR_946799.1:n.1299-363C>T
XR_946800.1:n.1048-363C>T
XM_017002792.1:c.276-363C>T XP_016858281.1:n.276-363C>T
NM_004700.4:c.1293-363C>T MANE Select NP_004691.2:n.1293-363C>T
NM_172163.3:c.1131-363C>T NP_751895.1:n.1131-363C>T