Canonical Allele Identifier: CA2645130531

Gene: KCNQ4

Linked Data

• gnomAD v4: 1-40783990-CGCCCCTCTGGCCCCGGGTCCGAGCCATGCGTCTCTGAGCGCCCCGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40783993_40784038del , CM000663.2:g.40783993_40784038del	GRCh38
NC_000001.10:g.41249665_41249710del , CM000663.1:g.41249665_41249710del	GRCh37
NC_000001.9:g.41022252_41022297del	NCBI36
NG_008139.1:g.4982_5027del
NG_008139.2:g.4982_5027del
NG_008139.3:g.5207_5252del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.-101_-56del MANE Select	ENSP00000262916.6:n.-101_-56del
NM_004700.4:c.-101_-56del MANE Select	NP_004691.2:n.-101_-56del
NM_172163.3:c.-101_-56del	NP_751895.1:n.-101_-56del