Canonical Allele Identifier: CA2645130391

Gene: KCNQ4

Linked Data

• gnomAD v4: 1-40783915-GGCCCCCAGGCTCCGAGCGCCCGCCCGCGGCCCCGGCCCGGCCCCTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40783922_40783967del , CM000663.2:g.40783922_40783967del	GRCh38
NC_000001.10:g.41249594_41249639del , CM000663.1:g.41249594_41249639del	GRCh37
NC_000001.9:g.41022181_41022226del	NCBI36
NG_008139.1:g.4911_4956del
NG_008139.2:g.4911_4956del
NG_008139.3:g.5136_5181del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.-172_-127del MANE Select	ENSP00000262916.6:n.-172_-127del
NM_004700.4:c.-172_-127del MANE Select	NP_004691.2:n.-172_-127del
NM_172163.3:c.-172_-127del	NP_751895.1:n.-172_-127del