Canonical Allele Identifier: CA5330282

Gene: LHX3

Linked Data

• ClinVar Variation Id: 449975
• ClinVar RCV Id: RCV000968854 ; RCV001168367
• dbSNP Id: rs201356862
• ExAC: 9:139089401 C / T
• gnomAD v2: 9-139089401-C-T
• gnomAD v3: 9-136197555-C-T
• gnomAD v4: 9-136197555-C-T
• MyVariant Identifiers: chr9:g.139089401C>T (hg19) ; chr9:g.136197555C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136197555C>T , CM000671.2:g.136197555C>T	GRCh38
NC_000009.11:g.139089401C>T , CM000671.1:g.139089401C>T	GRCh37
NC_000009.10:g.138229222C>T	NCBI36
NG_008097.1:g.12555G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371746.9:c.979G>A	ENSP00000360811.3:p.Ala327Thr
ENST00000371748.10:c.964G>A MANE Select	ENSP00000360813.4:p.Ala322Thr
ENST00000645419.1:n.1789G>A
ENST00000371746.7:c.979G>A	ENSP00000360811.3:p.Ala327Thr
ENST00000371748.9:c.964G>A	ENSP00000360813.4:p.Ala322Thr
ENST00000619587.1:c.931G>A	ENSP00000483080.1:p.Ala311Thr
NM_014564.3:c.979G>A	NP_055379.1:p.Ala327Thr
NM_178138.4:c.964G>A	NP_835258.1:p.Ala322Thr
XM_005263410.1:c.931G>A	XP_005263467.1:p.Ala311Thr
NM_001363746.1:c.931G>A	NP_001350675.1:p.Ala311Thr
NM_014564.4:c.979G>A	NP_055379.1:p.Ala327Thr
NM_178138.5:c.964G>A	NP_835258.1:p.Ala322Thr
XM_017015168.1:c.892G>A	XP_016870657.1:p.Ala298Thr
NM_178138.6:c.964G>A MANE Select	NP_835258.1:p.Ala322Thr
NM_014564.5:c.979G>A	NP_055379.1:p.Ala327Thr