Canonical Allele Identifier: CA339885380
Gene: KCNQ4 HGNC NCBI

Linked Data

dbSNP Id: rs1429420446
gnomAD v2: 1-41250027-T-C
gnomAD v3: 1-40784355-T-C
gnomAD v4: 1-40784355-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40784355T>C , CM000663.2:g.40784355T>C GRCh38
NC_000001.10:g.41250027T>C , CM000663.1:g.41250027T>C GRCh37
NC_000001.9:g.41022614T>C NCBI36
NG_008139.1:g.5344T>C
NG_008139.2:g.5344T>C
NG_008139.3:g.5569T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.262T>C MANE Select ENSP00000262916.6:p.Tyr88His
ENST00000347132.9:c.262T>C ENSP00000262916.6:p.Tyr88His
ENST00000509682.6:c.262T>C ENSP00000423756.2:p.Tyr88His
NM_004700.3:c.262T>C NP_004691.2:p.Tyr88His
NM_172163.2:c.262T>C NP_751895.1:p.Tyr88His
XM_011542417.1:c.262T>C XP_011540719.1:p.Tyr88His
XM_011542418.1:c.262T>C XP_011540720.1:p.Tyr88His
XM_011542419.1:c.262T>C XP_011540721.1:p.Tyr88His
XM_011542420.1:c.262T>C XP_011540722.1:p.Tyr88His
XR_946798.1:n.268T>C
XR_946799.1:n.268T>C
XR_946800.1:n.268T>C
NM_004700.4:c.262T>C MANE Select NP_004691.2:p.Tyr88His
NM_172163.3:c.262T>C NP_751895.1:p.Tyr88His