Canonical Allele Identifier: CA5330281

Gene: LHX3

Linked Data

• ClinVar Variation Id: 914279
• ClinVar RCV Id: RCV001168366 ; RCV001439572
• dbSNP Id: rs551180434
• ExAC: 9:139089399 G / A
• gnomAD v2: 9-139089399-G-A
• gnomAD v3: 9-136197553-G-A
• gnomAD v4: 9-136197553-G-A
• MyVariant Identifiers: chr9:g.139089399G>A (hg19) ; chr9:g.136197553G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136197553G>A , CM000671.2:g.136197553G>A	GRCh38
NC_000009.11:g.139089399G>A , CM000671.1:g.139089399G>A	GRCh37
NC_000009.10:g.138229220G>A	NCBI36
NG_008097.1:g.12557C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371746.9:c.981C>T	ENSP00000360811.3:p.Ala327=
ENST00000371748.10:c.966C>T MANE Select	ENSP00000360813.4:p.Ala322=
ENST00000645419.1:n.1791C>T
ENST00000371746.7:c.981C>T	ENSP00000360811.3:p.Ala327=
ENST00000371748.9:c.966C>T	ENSP00000360813.4:p.Ala322=
ENST00000619587.1:c.933C>T	ENSP00000483080.1:p.Ala311=
NM_014564.3:c.981C>T	NP_055379.1:p.Ala327=
NM_178138.4:c.966C>T	NP_835258.1:p.Ala322=
XM_005263410.1:c.933C>T	XP_005263467.1:p.Ala311=
NM_001363746.1:c.933C>T	NP_001350675.1:p.Ala311=
NM_014564.4:c.981C>T	NP_055379.1:p.Ala327=
NM_178138.5:c.966C>T	NP_835258.1:p.Ala322=
XM_017015168.1:c.894C>T	XP_016870657.1:p.Ala298=
NM_178138.6:c.966C>T MANE Select	NP_835258.1:p.Ala322=
NM_014564.5:c.981C>T	NP_055379.1:p.Ala327=