Canonical Allele Identifier: CA2645130471

Gene: KCNQ4

Linked Data

• gnomAD v4: 1-40783961-AGCCCCCGCCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40783962_40783971del , CM000663.2:g.40783962_40783971del	GRCh38
NC_000001.10:g.41249634_41249643del , CM000663.1:g.41249634_41249643del	GRCh37
NC_000001.9:g.41022221_41022230del	NCBI36
NG_008139.1:g.4951_4960del
NG_008139.2:g.4951_4960del
NG_008139.3:g.5176_5185del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.-132_-123del MANE Select	ENSP00000262916.6:n.-132_-123del
NM_004700.4:c.-132_-123del MANE Select	NP_004691.2:n.-132_-123del
NM_172163.3:c.-132_-123del	NP_751895.1:n.-132_-123del