Canonical Allele Identifier: CA522803438
Gene: KCNQ4 HGNC NCBI

Linked Data

dbSNP Id: rs1403826589
gnomAD v2: 1-41249686-C-T
gnomAD v3: 1-40784014-C-T
gnomAD v4: 1-40784014-C-T
MyVariant Identifiers: chr1:g.41249686C>T (hg19) chr1:g.40784014C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40784014C>T , CM000663.2:g.40784014C>T GRCh38
NC_000001.10:g.41249686C>T , CM000663.1:g.41249686C>T GRCh37
NC_000001.9:g.41022273C>T NCBI36
NG_008139.1:g.5003C>T
NG_008139.2:g.5003C>T
NG_008139.3:g.5228C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.-80C>T MANE Select ENSP00000262916.6:n.-80C>T
ENST00000347132.9:c.-80C>T ENSP00000262916.6:n.-80C>T
NM_004700.3:c.-80C>T NP_004691.2:n.-80C>T
NM_172163.2:c.-80C>T NP_751895.1:n.-80C>T
NM_004700.4:c.-80C>T MANE Select NP_004691.2:n.-80C>T
NM_172163.3:c.-80C>T NP_751895.1:n.-80C>T
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