Canonical Allele Identifier: CA522803454

Gene: KCNQ4

Linked Data

• dbSNP Id: rs1168357920
• gnomAD v2: 1-41249875-GC-G
• gnomAD v4: 1-40784203-GC-G
• MyVariant Identifiers: chr1:g.41249876del (hg19) ; chr1:g.40784204del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40784204del , CM000663.2:g.40784204del	GRCh38
NC_000001.10:g.41249876del , CM000663.1:g.41249876del	GRCh37
NC_000001.9:g.41022463del	NCBI36
NG_008139.1:g.5193del
NG_008139.2:g.5193del
NG_008139.3:g.5418del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.111del MANE Select	ENSP00000262916.6:p.Gly39AlafsTer?
ENST00000347132.9:c.111del	ENSP00000262916.6:p.Gly39AlafsTer?
ENST00000509682.6:c.111del	ENSP00000423756.2:p.Gly39AlafsTer?
NM_004700.3:c.111del	NP_004691.2:p.Gly39AlafsTer?
NM_172163.2:c.111del	NP_751895.1:p.Gly39AlafsTer?
XM_011542417.1:c.111del	XP_011540719.1:p.Gly39AlafsTer?
XM_011542418.1:c.111del	XP_011540720.1:p.Gly39AlafsTer?
XM_011542419.1:c.111del	XP_011540721.1:p.Gly39AlafsTer?
XM_011542420.1:c.111del	XP_011540722.1:p.Gly39AlafsTer?
XR_946798.1:n.117del
XR_946799.1:n.117del
XR_946800.1:n.117del
NM_004700.4:c.111del MANE Select	NP_004691.2:p.Gly39AlafsTer?
NM_172163.3:c.111del	NP_751895.1:p.Gly39AlafsTer?