Canonical Allele Identifier: CA735772211
Gene: KCNQ4 HGNC NCBI

Linked Data

dbSNP Id: rs944704052
gnomAD v3: 1-40783948-C-G
gnomAD v4: 1-40783948-C-G
MyVariant Identifiers: chr1:g.41249620C>G (hg19) chr1:g.40783948C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40783948C>G , CM000663.2:g.40783948C>G GRCh38
NC_000001.10:g.41249620C>G , CM000663.1:g.41249620C>G GRCh37
NC_000001.9:g.41022207C>G NCBI36
NG_008139.1:g.4937C>G
NG_008139.2:g.4937C>G
NG_008139.3:g.5162C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.-146C>G MANE Select ENSP00000262916.6:n.-146C>G
NM_004700.4:c.-146C>G MANE Select NP_004691.2:n.-146C>G
NM_172163.3:c.-146C>G NP_751895.1:n.-146C>G
Search 100 bp 5'
Search 100 bp 3'