Canonical Allele Identifier: CA2645130547

Gene: KCNQ4

Linked Data

• gnomAD v4: 1-40784008-TCCGAGCCATGCGTCTCTGAGCGCCCCGAGCGCGCCCCCGCCCCGGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40784012_40784057del , CM000663.2:g.40784012_40784057del	GRCh38
NC_000001.10:g.41249684_41249729del , CM000663.1:g.41249684_41249729del	GRCh37
NC_000001.9:g.41022271_41022316del	NCBI36
NG_008139.1:g.5001_5046del
NG_008139.2:g.5001_5046del
NG_008139.3:g.5226_5271del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.-82_-37del MANE Select	ENSP00000262916.6:n.-82_-37del
NM_004700.4:c.-82_-37del MANE Select	NP_004691.2:n.-82_-37del
NM_172163.3:c.-82_-37del	NP_751895.1:n.-82_-37del