Canonical Allele Identifier: CA1000909368
Gene: KCNQ4 HGNC NCBI

Linked Data

dbSNP Id: rs1647179038
gnomAD v3: 1-40783990-C-G
gnomAD v4: 1-40783990-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40783990C>G , CM000663.2:g.40783990C>G GRCh38
NC_000001.10:g.41249662C>G , CM000663.1:g.41249662C>G GRCh37
NC_000001.9:g.41022249C>G NCBI36
NG_008139.1:g.4979C>G
NG_008139.2:g.4979C>G
NG_008139.3:g.5204C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.-104C>G MANE Select ENSP00000262916.6:n.-104C>G
NM_004700.4:c.-104C>G MANE Select NP_004691.2:n.-104C>G
NM_172163.3:c.-104C>G NP_751895.1:n.-104C>G