Canonical Allele Identifier: CA2645130955

Gene: KCNQ4

Linked Data

• gnomAD v4: 1-40784116-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40784116_40784117insA , CM000663.2:g.40784116_40784117insA	GRCh38
NC_000001.10:g.41249788_41249789insA , CM000663.1:g.41249788_41249789insA	GRCh37
NC_000001.9:g.41022375_41022376insA	NCBI36
NG_008139.1:g.5105_5106insA
NG_008139.2:g.5105_5106insA
NG_008139.3:g.5330_5331insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.23_24insA MANE Select	ENSP00000262916.6:p.Leu9ProfsTer?
ENST00000347132.9:c.23_24insA	ENSP00000262916.6:p.Leu9ProfsTer?
ENST00000509682.6:c.23_24insA	ENSP00000423756.2:p.Leu9ProfsTer?
NM_004700.3:c.23_24insA	NP_004691.2:p.Leu9ProfsTer?
NM_172163.2:c.23_24insA	NP_751895.1:p.Leu9ProfsTer?
XM_011542417.1:c.23_24insA	XP_011540719.1:p.Leu9ProfsTer?
XM_011542418.1:c.23_24insA	XP_011540720.1:p.Leu9ProfsTer?
XM_011542419.1:c.23_24insA	XP_011540721.1:p.Leu9ProfsTer?
XM_011542420.1:c.23_24insA	XP_011540722.1:p.Leu9ProfsTer?
XR_946798.1:n.29_30insA
XR_946799.1:n.29_30insA
XR_946800.1:n.29_30insA
NM_004700.4:c.23_24insA MANE Select	NP_004691.2:p.Leu9ProfsTer?
NM_172163.3:c.23_24insA	NP_751895.1:p.Leu9ProfsTer?