Canonical Allele Identifier: CA16618799

Gene: LHX3

Linked Data

• ClinVar Variation Id: 421104
• ClinVar RCV Id: RCV000484284
• dbSNP Id: rs1064794911
• gnomAD v4: 9-136197646-GC-G
• MyVariant Identifiers: chr9:g.139089493del (hg19) ; chr9:g.136197647del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136197649del , CM000671.2:g.136197649del	GRCh38
NC_000009.11:g.139089495del , CM000671.1:g.139089495del	GRCh37
NC_000009.10:g.138229316del	NCBI36
NG_008097.1:g.12463del

Transcript Alleles

HGVS	Amino-acid change
ENST00000371746.9:c.887del	ENSP00000360811.3:p.Gly296AlafsTer?
ENST00000371748.10:c.872del MANE Select	ENSP00000360813.4:p.Gly291AlafsTer?
ENST00000645419.1:n.1697del
ENST00000371746.7:c.887del	ENSP00000360811.3:p.Gly296AlafsTer?
ENST00000371748.9:c.872del	ENSP00000360813.4:p.Gly291AlafsTer?
ENST00000619587.1:c.839del	ENSP00000483080.1:p.Gly280AlafsTer?
NM_014564.3:c.887del	NP_055379.1:p.Gly296AlafsTer?
NM_178138.4:c.872del	NP_835258.1:p.Gly291AlafsTer?
XM_005263410.1:c.839del	XP_005263467.1:p.Gly280AlafsTer?
NM_001363746.1:c.839del	NP_001350675.1:p.Gly280AlafsTer?
NM_014564.4:c.887del	NP_055379.1:p.Gly296AlafsTer?
NM_178138.5:c.872del	NP_835258.1:p.Gly291AlafsTer?
XM_017015168.1:c.800del	XP_016870657.1:p.Gly267AlafsTer?
NM_178138.6:c.872del MANE Select	NP_835258.1:p.Gly291AlafsTer?
NM_014564.5:c.887del	NP_055379.1:p.Gly296AlafsTer?