Canonical Allele Identifier: CA1164531009
Gene: KCNQ4 HGNC NCBI

Linked Data

dbSNP Id: rs1647179086
gnomAD v3: 1-40784011-G-A
gnomAD v4: 1-40784011-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40784011G>A , CM000663.2:g.40784011G>A GRCh38
NC_000001.10:g.41249683G>A , CM000663.1:g.41249683G>A GRCh37
NC_000001.9:g.41022270G>A NCBI36
NG_008139.1:g.5000G>A
NG_008139.2:g.5000G>A
NG_008139.3:g.5225G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.-83G>A MANE Select ENSP00000262916.6:n.-83G>A
NM_004700.4:c.-83G>A MANE Select NP_004691.2:n.-83G>A
NM_172163.3:c.-83G>A NP_751895.1:n.-83G>A
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