Canonical Allele Identifier: CA735772305
Gene: KCNQ4 HGNC NCBI

Linked Data

dbSNP Id: rs1274733009
gnomAD v4: 1-40784072-C-A
MyVariant Identifiers: chr1:g.41249744C>A (hg19) chr1:g.40784072C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40784072C>A , CM000663.2:g.40784072C>A GRCh38
NC_000001.10:g.41249744C>A , CM000663.1:g.41249744C>A GRCh37
NC_000001.9:g.41022331C>A NCBI36
NG_008139.1:g.5061C>A
NG_008139.2:g.5061C>A
NG_008139.3:g.5286C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.-22C>A MANE Select ENSP00000262916.6:n.-22C>A
ENST00000347132.9:c.-22C>A ENSP00000262916.6:n.-22C>A
NM_004700.3:c.-22C>A NP_004691.2:n.-22C>A
NM_172163.2:c.-22C>A NP_751895.1:n.-22C>A
NM_004700.4:c.-22C>A MANE Select NP_004691.2:n.-22C>A
NM_172163.3:c.-22C>A NP_751895.1:n.-22C>A
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