Canonical Allele Identifier: CA2645138944
Gene: KCNQ4 HGNC NCBI

Linked Data

gnomAD v4: 1-40834946-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40834946C>T , CM000663.2:g.40834946C>T GRCh38
NC_000001.10:g.41300618C>T , CM000663.1:g.41300618C>T GRCh37
NC_000001.9:g.41073205C>T NCBI36
NG_008139.1:g.55935C>T
NG_008139.2:g.55935C>T
NG_008139.3:g.56160C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.1614-21C>T MANE Select ENSP00000262916.6:n.1614-21C>T
ENST00000347132.9:c.1614-21C>T ENSP00000262916.6:n.1614-21C>T
ENST00000443478.3:c.1195-21C>T
ENST00000506017.1:n.933-21C>T
ENST00000509682.6:c.1452-21C>T ENSP00000423756.2:n.1452-21C>T
NM_004700.3:c.1614-21C>T NP_004691.2:n.1614-21C>T
NM_172163.2:c.1452-21C>T NP_751895.1:n.1452-21C>T
XR_946798.1:n.1620-5C>T
XR_946799.1:n.1620-5C>T
XR_946800.1:n.1369-21C>T
XM_017002792.1:c.597-21C>T XP_016858281.1:n.597-21C>T
NM_004700.4:c.1614-21C>T MANE Select NP_004691.2:n.1614-21C>T
NM_172163.3:c.1452-21C>T NP_751895.1:n.1452-21C>T