Canonical Allele Identifier: CA1000909367
Gene: KCNQ4 HGNC NCBI

Linked Data

gnomAD v3: 1-40783989-T-G
gnomAD v4: 1-40783989-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40783989T>G , CM000663.2:g.40783989T>G GRCh38
NC_000001.10:g.41249661T>G , CM000663.1:g.41249661T>G GRCh37
NC_000001.9:g.41022248T>G NCBI36
NG_008139.1:g.4978T>G
NG_008139.2:g.4978T>G
NG_008139.3:g.5203T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.-105T>G MANE Select ENSP00000262916.6:n.-105T>G
NM_004700.4:c.-105T>G MANE Select NP_004691.2:n.-105T>G
NM_172163.3:c.-105T>G NP_751895.1:n.-105T>G