Canonical Allele Identifier: CA1000909486

Gene: KCNQ4

Linked Data

• gnomAD v3: 1-40784106-CCCCCGCGCCGCCTCGGCCTGGGTCCCCCGCCCGGGGACGCCCCCCGCGCGGAGCTAGTGGCGCTCACGGCCGTGCAGAGCGAACAGGGCGAGGCGGGCGGGGGCGGCT-C
• gnomAD v4: 1-40784106-CCCCCGCGCCGCCTCGGCCTGGGTCCCCCGCCCGGGGACGCCCCCCGCGCGGAGCTAGTGGCGCTCACGGCCGTGCAGAGCGAACAGGGCGAGGCGGGCGGGGGCGGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40784126_40784233del , CM000663.2:g.40784126_40784233del	GRCh38
NC_000001.10:g.41249798_41249905del , CM000663.1:g.41249798_41249905del	GRCh37
NC_000001.9:g.41022385_41022492del	NCBI36
NG_008139.1:g.5115_5222del
NG_008139.2:g.5115_5222del
NG_008139.3:g.5340_5447del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347132.10:c.33_140del MANE Select	ENSP00000262916.6:p.Gly12_Leu47del
ENST00000347132.9:c.33_140del	ENSP00000262916.6:p.Gly12_Leu47del
ENST00000509682.6:c.33_140del	ENSP00000423756.2:p.Gly12_Leu47del
NM_004700.3:c.33_140del	NP_004691.2:p.Gly12_Leu47del
NM_172163.2:c.33_140del	NP_751895.1:p.Gly12_Leu47del
XM_011542417.1:c.33_140del	XP_011540719.1:p.Gly12_Leu47del
XM_011542418.1:c.33_140del	XP_011540720.1:p.Gly12_Leu47del
XM_011542419.1:c.33_140del	XP_011540721.1:p.Gly12_Leu47del
XM_011542420.1:c.33_140del	XP_011540722.1:p.Gly12_Leu47del
XR_946798.1:n.39_146del
XR_946799.1:n.39_146del
XR_946800.1:n.39_146del
NM_004700.4:c.33_140del MANE Select	NP_004691.2:p.Gly12_Leu47del
NM_172163.3:c.33_140del	NP_751895.1:p.Gly12_Leu47del