Canonical Allele Identifier: CA735772235
Gene: KCNQ4 HGNC NCBI

Linked Data

dbSNP Id: rs1286136421
gnomAD v3: 1-40783981-G-A
gnomAD v4: 1-40783981-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40783981G>A , CM000663.2:g.40783981G>A GRCh38
NC_000001.10:g.41249653G>A , CM000663.1:g.41249653G>A GRCh37
NC_000001.9:g.41022240G>A NCBI36
NG_008139.1:g.4970G>A
NG_008139.2:g.4970G>A
NG_008139.3:g.5195G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.-113G>A MANE Select ENSP00000262916.6:n.-113G>A
NM_004700.4:c.-113G>A MANE Select NP_004691.2:n.-113G>A
NM_172163.3:c.-113G>A NP_751895.1:n.-113G>A