Canonical Allele Identifier: CA2645130380

Gene: KCNQ4

Linked Data

• gnomAD v4: 1-40783913-GCGGCCCCCAGGCTCCGAGCGCCCGCCCGCGGCCCCGGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40783921_40783959del , CM000663.2:g.40783921_40783959del	GRCh38
NC_000001.10:g.41249593_41249631del , CM000663.1:g.41249593_41249631del	GRCh37
NC_000001.9:g.41022180_41022218del	NCBI36
NG_008139.1:g.4910_4948del
NG_008139.2:g.4910_4948del
NG_008139.3:g.5135_5173del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.-173_-135del MANE Select	ENSP00000262916.6:n.-173_-135del
NM_004700.4:c.-173_-135del MANE Select	NP_004691.2:n.-173_-135del
NM_172163.3:c.-173_-135del	NP_751895.1:n.-173_-135del