Canonical Allele Identifier: CA467824653

Gene: LHX3

Linked Data

• ClinVar Variation Id: 1671646
• ClinVar RCV Id: RCV002199115
• dbSNP Id: rs2131030278
• gnomAD v4: 9-136197559-G-A
• MyVariant Identifiers: chr9:g.139089405G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136197559G>A , CM000671.2:g.136197559G>A	GRCh38
NC_000009.11:g.139089405G>A , CM000671.1:g.139089405G>A	GRCh37
NC_000009.10:g.138229226G>A	NCBI36
NG_008097.1:g.12551C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371746.9:c.975C>T	ENSP00000360811.3:p.Ser325=
ENST00000371748.10:c.960C>T MANE Select	ENSP00000360813.4:p.Ser320=
ENST00000645419.1:n.1785C>T
ENST00000371746.7:c.975C>T	ENSP00000360811.3:p.Ser325=
ENST00000371748.9:c.960C>T	ENSP00000360813.4:p.Ser320=
ENST00000619587.1:c.927C>T	ENSP00000483080.1:p.Ser309=
NM_014564.3:c.975C>T	NP_055379.1:p.Ser325=
NM_178138.4:c.960C>T	NP_835258.1:p.Ser320=
XM_005263410.1:c.927C>T	XP_005263467.1:p.Ser309=
NM_001363746.1:c.927C>T	NP_001350675.1:p.Ser309=
NM_014564.4:c.975C>T	NP_055379.1:p.Ser325=
NM_178138.5:c.960C>T	NP_835258.1:p.Ser320=
XM_017015168.1:c.888C>T	XP_016870657.1:p.Ser296=
NM_178138.6:c.960C>T MANE Select	NP_835258.1:p.Ser320=
NM_014564.5:c.975C>T	NP_055379.1:p.Ser325=