Canonical Allele Identifier: CA2645130913

Gene: KCNQ4

Linked Data

• gnomAD v4: 1-40784103-G-GCC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40784109_40784110dup , CM000663.2:g.40784109_40784110dup	GRCh38
NC_000001.10:g.41249781_41249782dup , CM000663.1:g.41249781_41249782dup	GRCh37
NC_000001.9:g.41022368_41022369dup	NCBI36
NG_008139.1:g.5098_5099dup
NG_008139.2:g.5098_5099dup
NG_008139.3:g.5323_5324dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.16_17dup MANE Select	ENSP00000262916.6:p.Arg8AlafsTer17
ENST00000347132.9:c.16_17dup	ENSP00000262916.6:p.Arg8AlafsTer17
ENST00000509682.6:c.16_17dup	ENSP00000423756.2:p.Arg8AlafsTer17
NM_004700.3:c.16_17dup	NP_004691.2:p.Arg8AlafsTer17
NM_172163.2:c.16_17dup	NP_751895.1:p.Arg8AlafsTer17
XM_011542417.1:c.16_17dup	XP_011540719.1:p.Arg8AlafsTer17
XM_011542418.1:c.16_17dup	XP_011540720.1:p.Arg8AlafsTer17
XM_011542419.1:c.16_17dup	XP_011540721.1:p.Arg8AlafsTer17
XM_011542420.1:c.16_17dup	XP_011540722.1:p.Arg8AlafsTer17
XR_946798.1:n.22_23dup
XR_946799.1:n.22_23dup
XR_946800.1:n.22_23dup
NM_004700.4:c.16_17dup MANE Select	NP_004691.2:p.Arg8AlafsTer17
NM_172163.3:c.16_17dup	NP_751895.1:p.Arg8AlafsTer17