Canonical Allele Identifier: CA21088951
Gene: KCNQ4 HGNC NCBI

Linked Data

dbSNP Id: rs976599734
gnomAD v3: 1-40783959-C-G
gnomAD v4: 1-40783959-C-G
MyVariant Identifiers: chr1:g.41249631C>G (hg19) chr1:g.40783959C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40783959C>G , CM000663.2:g.40783959C>G GRCh38
NC_000001.10:g.41249631C>G , CM000663.1:g.41249631C>G GRCh37
NC_000001.9:g.41022218C>G NCBI36
NG_008139.1:g.4948C>G
NG_008139.2:g.4948C>G
NG_008139.3:g.5173C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.-135C>G MANE Select ENSP00000262916.6:n.-135C>G
NM_004700.4:c.-135C>G MANE Select NP_004691.2:n.-135C>G
NM_172163.3:c.-135C>G NP_751895.1:n.-135C>G
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