Canonical Allele Identifier: CA2645130496

Gene: KCNQ4

Linked Data

• gnomAD v4: 1-40783973-C-CGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40783973_40783974insGGG , CM000663.2:g.40783973_40783974insGGG	GRCh38
NC_000001.10:g.41249645_41249646insGGG , CM000663.1:g.41249645_41249646insGGG	GRCh37
NC_000001.9:g.41022232_41022233insGGG	NCBI36
NG_008139.1:g.4962_4963insGGG
NG_008139.2:g.4962_4963insGGG
NG_008139.3:g.5187_5188insGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.-121_-120insGGG MANE Select	ENSP00000262916.6:n.-121_-120insGGG
NM_004700.4:c.-121_-120insGGG MANE Select	NP_004691.2:n.-121_-120insGGG
NM_172163.3:c.-121_-120insGGG	NP_751895.1:n.-121_-120insGGG