Canonical Allele Identifier: CA5330280

Gene: LHX3

Linked Data

• ClinVar Variation Id: 2230340
• ClinVar RCV Id: RCV002717551
• dbSNP Id: rs763696216
• ExAC: 9:139089395 G / A
• gnomAD v2: 9-139089395-G-A
• gnomAD v3: 9-136197549-G-A
• gnomAD v4: 9-136197549-G-A
• MyVariant Identifiers: chr9:g.139089395G>A (hg19) ; chr9:g.136197549G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136197549G>A , CM000671.2:g.136197549G>A	GRCh38
NC_000009.11:g.139089395G>A , CM000671.1:g.139089395G>A	GRCh37
NC_000009.10:g.138229216G>A	NCBI36
NG_008097.1:g.12561C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371746.9:c.985C>T	ENSP00000360811.3:p.Pro329Ser
ENST00000371748.10:c.970C>T MANE Select	ENSP00000360813.4:p.Pro324Ser
ENST00000645419.1:n.1795C>T
ENST00000371746.7:c.985C>T	ENSP00000360811.3:p.Pro329Ser
ENST00000371748.9:c.970C>T	ENSP00000360813.4:p.Pro324Ser
ENST00000619587.1:c.937C>T	ENSP00000483080.1:p.Pro313Ser
NM_014564.3:c.985C>T	NP_055379.1:p.Pro329Ser
NM_178138.4:c.970C>T	NP_835258.1:p.Pro324Ser
XM_005263410.1:c.937C>T	XP_005263467.1:p.Pro313Ser
NM_001363746.1:c.937C>T	NP_001350675.1:p.Pro313Ser
NM_014564.4:c.985C>T	NP_055379.1:p.Pro329Ser
NM_178138.5:c.970C>T	NP_835258.1:p.Pro324Ser
XM_017015168.1:c.898C>T	XP_016870657.1:p.Pro300Ser
NM_178138.6:c.970C>T MANE Select	NP_835258.1:p.Pro324Ser
NM_014564.5:c.985C>T	NP_055379.1:p.Pro329Ser