Canonical Allele Identifier: CA21082955
Gene: KCNQ4 HGNC NCBI

Linked Data

dbSNP Id: rs144611582
MyVariant Identifiers: chr1:g.40830740G>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40830740G>T , CM000663.2:g.40830740G>T GRCh38
NC_000001.10:g.41296412G>T , CM000663.1:g.41296412G>T GRCh37
NC_000001.9:g.41068999G>T NCBI36
NG_008139.1:g.51729G>T
NG_008139.2:g.51729G>T
NG_008139.3:g.51954G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.1293-344G>T MANE Select ENSP00000262916.6:n.1293-344G>T
ENST00000347132.9:c.1293-344G>T ENSP00000262916.6:n.1293-344G>T
ENST00000443478.3:c.874-344G>T
ENST00000506017.1:n.612-344G>T
ENST00000509682.6:c.1131-344G>T ENSP00000423756.2:n.1131-344G>T
NM_004700.3:c.1293-344G>T NP_004691.2:n.1293-344G>T
NM_172163.2:c.1131-344G>T NP_751895.1:n.1131-344G>T
XM_011542418.1:c.1258G>T XP_011540720.1:p.Ala420Ser
XR_946798.1:n.1299-344G>T
XR_946799.1:n.1299-344G>T
XR_946800.1:n.1048-344G>T
XM_017002792.1:c.276-344G>T XP_016858281.1:n.276-344G>T
NM_004700.4:c.1293-344G>T MANE Select NP_004691.2:n.1293-344G>T
NM_172163.3:c.1131-344G>T NP_751895.1:n.1131-344G>T