Canonical Allele Identifier: CA399176630
Gene: LHX1 HGNC NCBI
ClinVar RCV:
RCV003369168
ClinVar Variation:
2606361
MyVariant.info:
GRCh38 chr17:g.36940511A>C
GRCh37 chr17:g.35297808A>C
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.36940511A>C , CM000679.2:g.36940511A>C GRCh38
NC_000017.10:g.35297808A>C , CM000679.1:g.35297808A>C GRCh37
NC_000017.9:g.32371921A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000673652.1:n.859A>C
ENST00000614239.1:c.392A>C MANE Select ENSP00000477829.1:p.His131Pro
ENST00000616237.1:n.574A>C
ENST00000619939.4:n.955A>C
NM_005568.4:c.392A>C NP_005559.2:p.His131Pro
NM_005568.5:c.392A>C MANE Select NP_005559.2:p.His131Pro
Search 100 bp 5'
Search 100 bp 3'