Canonical Allele Identifier: CA2574332554

Gene: KCNQ4

Linked Data

• gnomAD v4: 1-40784138-CGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40784141_40784142del , CM000663.2:g.40784141_40784142del	GRCh38
NC_000001.10:g.41249813_41249814del , CM000663.1:g.41249813_41249814del	GRCh37
NC_000001.9:g.41022400_41022401del	NCBI36
NG_008139.1:g.5130_5131del
NG_008139.2:g.5130_5131del
NG_008139.3:g.5355_5356del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.48_49del MANE Select	ENSP00000262916.6:p.Asp17ArgfsTer?
ENST00000347132.9:c.48_49del	ENSP00000262916.6:p.Asp17ArgfsTer?
ENST00000509682.6:c.48_49del	ENSP00000423756.2:p.Asp17ArgfsTer?
NM_004700.3:c.48_49del	NP_004691.2:p.Asp17ArgfsTer?
NM_172163.2:c.48_49del	NP_751895.1:p.Asp17ArgfsTer?
XM_011542417.1:c.48_49del	XP_011540719.1:p.Asp17ArgfsTer?
XM_011542418.1:c.48_49del	XP_011540720.1:p.Asp17ArgfsTer?
XM_011542419.1:c.48_49del	XP_011540721.1:p.Asp17ArgfsTer?
XM_011542420.1:c.48_49del	XP_011540722.1:p.Asp17ArgfsTer?
XR_946798.1:n.54_55del
XR_946799.1:n.54_55del
XR_946800.1:n.54_55del
NM_004700.4:c.48_49del MANE Select	NP_004691.2:p.Asp17ArgfsTer?
NM_172163.3:c.48_49del	NP_751895.1:p.Asp17ArgfsTer?