Canonical Allele Identifier: CA417535099

Gene: KCNQ4

Linked Data

• gnomAD v4: 1-40784204-C-CG
• MyVariant Identifiers: chr1:g.41249876_41249877insG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40784209dup , CM000663.2:g.40784209dup	GRCh38
NC_000001.10:g.41249881dup , CM000663.1:g.41249881dup	GRCh37
NC_000001.9:g.41022468dup	NCBI36
NG_008139.1:g.5198dup
NG_008139.2:g.5198dup
NG_008139.3:g.5423dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.116dup MANE Select	ENSP00000262916.6:p.Gly40ArgfsTer?
ENST00000347132.9:c.116dup	ENSP00000262916.6:p.Gly40ArgfsTer?
ENST00000509682.6:c.116dup	ENSP00000423756.2:p.Gly40ArgfsTer?
NM_004700.3:c.116dup	NP_004691.2:p.Gly40ArgfsTer?
NM_172163.2:c.116dup	NP_751895.1:p.Gly40ArgfsTer?
XM_011542417.1:c.116dup	XP_011540719.1:p.Gly40ArgfsTer?
XM_011542418.1:c.116dup	XP_011540720.1:p.Gly40ArgfsTer?
XM_011542419.1:c.116dup	XP_011540721.1:p.Gly40ArgfsTer?
XM_011542420.1:c.116dup	XP_011540722.1:p.Gly40ArgfsTer?
XR_946798.1:n.122dup
XR_946799.1:n.122dup
XR_946800.1:n.122dup
NM_004700.4:c.116dup MANE Select	NP_004691.2:p.Gly40ArgfsTer?
NM_172163.3:c.116dup	NP_751895.1:p.Gly40ArgfsTer?