Canonical Allele Identifier: CA339885315
Gene: KCNQ4 HGNC NCBI

Linked Data

dbSNP Id: rs1647182713
gnomAD v4: 1-40784325-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40784325A>C , CM000663.2:g.40784325A>C GRCh38
NC_000001.10:g.41249997A>C , CM000663.1:g.41249997A>C GRCh37
NC_000001.9:g.41022584A>C NCBI36
NG_008139.1:g.5314A>C
NG_008139.2:g.5314A>C
NG_008139.3:g.5539A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.232A>C MANE Select ENSP00000262916.6:p.Lys78Gln
ENST00000347132.9:c.232A>C ENSP00000262916.6:p.Lys78Gln
ENST00000509682.6:c.232A>C ENSP00000423756.2:p.Lys78Gln
NM_004700.3:c.232A>C NP_004691.2:p.Lys78Gln
NM_172163.2:c.232A>C NP_751895.1:p.Lys78Gln
XM_011542417.1:c.232A>C XP_011540719.1:p.Lys78Gln
XM_011542418.1:c.232A>C XP_011540720.1:p.Lys78Gln
XM_011542419.1:c.232A>C XP_011540721.1:p.Lys78Gln
XM_011542420.1:c.232A>C XP_011540722.1:p.Lys78Gln
XR_946798.1:n.238A>C
XR_946799.1:n.238A>C
XR_946800.1:n.238A>C
NM_004700.4:c.232A>C MANE Select NP_004691.2:p.Lys78Gln
NM_172163.3:c.232A>C NP_751895.1:p.Lys78Gln