Canonical Allele Identifier: CA2645137069

Gene: KCNQ4

Linked Data

• gnomAD v4: 1-40819349-GCTGATCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40819351_40819357del , CM000663.2:g.40819351_40819357del	GRCh38
NC_000001.10:g.41285023_41285029del , CM000663.1:g.41285023_41285029del	GRCh37
NC_000001.9:g.41057610_41057616del	NCBI36
NG_008139.1:g.40340_40346del
NG_008139.2:g.40340_40346del
NG_008139.3:g.40565_40571del

Transcript Alleles

HGVS	Amino-acid change
ENST00000347132.10:c.713_719del MANE Select	ENSP00000262916.6:p.Leu238ProfsTer?
ENST00000347132.9:c.713_719del	ENSP00000262916.6:p.Leu238ProfsTer?
ENST00000443478.3:c.399_405del
ENST00000506017.1:n.32_38del
ENST00000509682.6:c.713_719del	ENSP00000423756.2:p.Leu238ProfsTer?
NM_004700.3:c.713_719del	NP_004691.2:p.Leu238ProfsTer?
NM_172163.2:c.713_719del	NP_751895.1:p.Leu238ProfsTer?
XM_011542417.1:c.713_719del	XP_011540719.1:p.Leu238ProfsTer?
XM_011542418.1:c.713_719del	XP_011540720.1:p.Leu238ProfsTer?
XM_011542419.1:c.713_719del	XP_011540721.1:p.Leu238ProfsTer?
XM_011542420.1:c.713_719del	XP_011540722.1:p.Leu238ProfsTer?
XR_946798.1:n.719_725del
XR_946799.1:n.719_725del
XR_946800.1:n.719_725del
XM_017002792.1:c.-305_-299del	XP_016858281.1:n.-305_-299del
NM_004700.4:c.713_719del MANE Select	NP_004691.2:p.Leu238ProfsTer?
NM_172163.3:c.713_719del	NP_751895.1:p.Leu238ProfsTer?