Canonical Allele Identifier: CA339895964
Community Standard Title: NM_004700.4(KCNQ4):c.886G>T (p.Gly296Cys)
Gene: KCNQ4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40819926G>T , CM000663.2:g.40819926G>T GRCh38
NC_000001.10:g.41285598G>T , CM000663.1:g.41285598G>T GRCh37
NC_000001.9:g.41058185G>T NCBI36
NG_008139.1:g.40915G>T
NG_008139.2:g.40915G>T
NG_008139.3:g.41140G>T

Transcript Alleles

HGVS Amino-acid Change
NM_004700.4:c.886G>T MANE Select NP_004691.2:p.Gly296Cys
ENST00000347132.10:c.886G>T MANE Select ENSP00000262916.6:p.Gly296Cys
NM_004700.3:c.886G>T NP_004691.2:p.Gly296Cys
NM_172163.2:c.886G>T NP_751895.1:p.Gly296Cys
NM_172163.3:c.886G>T NP_751895.1:p.Gly296Cys
ENST00000347132.9:c.886G>T ENSP00000262916.6:p.Gly296Cys
ENST00000443478.3:c.572G>T
ENST00000506017.1:n.205G>T
ENST00000509682.6:c.886G>T ENSP00000423756.2:p.Gly296Cys
XM_011542417.1:c.886G>T XP_011540719.1:p.Gly296Cys
XM_011542418.1:c.886G>T XP_011540720.1:p.Gly296Cys
XM_011542419.1:c.886G>T XP_011540721.1:p.Gly296Cys
XM_011542420.1:c.886G>T XP_011540722.1:p.Gly296Cys
XM_017002792.1:c.-132G>T XP_016858281.1:n.-132G>T
XR_946798.1:n.892G>T
XR_946799.1:n.892G>T
XR_946800.1:n.892G>T