Canonical Allele Identifier: CA794467
Gene: KCNQ4 HGNC NCBI

Linked Data

dbSNP Id: rs760630974
gnomAD v2: 1-41250006-C-T
gnomAD v4: 1-40784334-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40784334C>T , CM000663.2:g.40784334C>T GRCh38
NC_000001.10:g.41250006C>T , CM000663.1:g.41250006C>T GRCh37
NC_000001.9:g.41022593C>T NCBI36
NG_008139.1:g.5323C>T
NG_008139.2:g.5323C>T
NG_008139.3:g.5548C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.241C>T MANE Select ENSP00000262916.6:p.Arg81Cys
ENST00000347132.9:c.241C>T ENSP00000262916.6:p.Arg81Cys
ENST00000509682.6:c.241C>T ENSP00000423756.2:p.Arg81Cys
NM_004700.3:c.241C>T NP_004691.2:p.Arg81Cys
NM_172163.2:c.241C>T NP_751895.1:p.Arg81Cys
XM_011542417.1:c.241C>T XP_011540719.1:p.Arg81Cys
XM_011542418.1:c.241C>T XP_011540720.1:p.Arg81Cys
XM_011542419.1:c.241C>T XP_011540721.1:p.Arg81Cys
XM_011542420.1:c.241C>T XP_011540722.1:p.Arg81Cys
XR_946798.1:n.247C>T
XR_946799.1:n.247C>T
XR_946800.1:n.247C>T
NM_004700.4:c.241C>T MANE Select NP_004691.2:p.Arg81Cys
NM_172163.3:c.241C>T NP_751895.1:p.Arg81Cys