Canonical Allele Identifier: CA339895387
Gene: KCNQ4 HGNC NCBI

Linked Data

gnomAD v4: 1-40819368-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40819368A>G , CM000663.2:g.40819368A>G GRCh38
NC_000001.10:g.41285040A>G , CM000663.1:g.41285040A>G GRCh37
NC_000001.9:g.41057627A>G NCBI36
NG_008139.1:g.40357A>G
NG_008139.2:g.40357A>G
NG_008139.3:g.40582A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000347132.10:c.730A>G MANE Select ENSP00000262916.6:p.Ile244Val
ENST00000347132.9:c.730A>G ENSP00000262916.6:p.Ile244Val
ENST00000443478.3:c.416A>G
ENST00000506017.1:n.49A>G
ENST00000509682.6:c.730A>G ENSP00000423756.2:p.Ile244Val
NM_004700.3:c.730A>G NP_004691.2:p.Ile244Val
NM_172163.2:c.730A>G NP_751895.1:p.Ile244Val
XM_011542417.1:c.730A>G XP_011540719.1:p.Ile244Val
XM_011542418.1:c.730A>G XP_011540720.1:p.Ile244Val
XM_011542419.1:c.730A>G XP_011540721.1:p.Ile244Val
XM_011542420.1:c.730A>G XP_011540722.1:p.Ile244Val
XR_946798.1:n.736A>G
XR_946799.1:n.736A>G
XR_946800.1:n.736A>G
XM_017002792.1:c.-288A>G XP_016858281.1:n.-288A>G
NM_004700.4:c.730A>G MANE Select NP_004691.2:p.Ile244Val
NM_172163.3:c.730A>G NP_751895.1:p.Ile244Val