Canonical Allele Identifier: CA2645138936
Gene: KCNQ4 HGNC NCBI

Linked Data

gnomAD v4: 1-40834912-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40834912G>C , CM000663.2:g.40834912G>C GRCh38
NC_000001.10:g.41300584G>C , CM000663.1:g.41300584G>C GRCh37
NC_000001.9:g.41073171G>C NCBI36
NG_008139.1:g.55901G>C
NG_008139.2:g.55901G>C
NG_008139.3:g.56126G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000347132.10:c.1614-55G>C MANE Select ENSP00000262916.6:n.1614-55G>C
ENST00000347132.9:c.1614-55G>C ENSP00000262916.6:n.1614-55G>C
ENST00000443478.3:c.1195-55G>C
ENST00000506017.1:n.933-55G>C
ENST00000509682.6:c.1452-55G>C ENSP00000423756.2:n.1452-55G>C
NM_004700.3:c.1614-55G>C NP_004691.2:n.1614-55G>C
NM_172163.2:c.1452-55G>C NP_751895.1:n.1452-55G>C
XR_946798.1:n.1620-39G>C
XR_946799.1:n.1620-39G>C
XR_946800.1:n.1369-55G>C
XM_017002792.1:c.597-55G>C XP_016858281.1:n.597-55G>C
NM_004700.4:c.1614-55G>C MANE Select NP_004691.2:n.1614-55G>C
NM_172163.3:c.1452-55G>C NP_751895.1:n.1452-55G>C