Canonical Allele Identifier: CA2645130566

Gene: KCNQ4

Linked Data

• gnomAD v4: 1-40784029-CGCCCCGAGCGCGCCCCCGCCCCGGACCGTGCCCGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40784036_40784070del , CM000663.2:g.40784036_40784070del	GRCh38
NC_000001.10:g.41249708_41249742del , CM000663.1:g.41249708_41249742del	GRCh37
NC_000001.9:g.41022295_41022329del	NCBI36
NG_008139.1:g.5025_5059del
NG_008139.2:g.5025_5059del
NG_008139.3:g.5250_5284del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.-58_-24del MANE Select	ENSP00000262916.6:n.-58_-24del
ENST00000347132.9:c.-58_-24del	ENSP00000262916.6:n.-58_-24del
NM_004700.3:c.-58_-24del	NP_004691.2:n.-58_-24del
NM_172163.2:c.-58_-24del	NP_751895.1:n.-58_-24del
NM_004700.4:c.-58_-24del MANE Select	NP_004691.2:n.-58_-24del
NM_172163.3:c.-58_-24del	NP_751895.1:n.-58_-24del