Canonical Allele Identifier: CA8513809
Gene: LHX1 HGNC NCBI
ClinVar RCV:
RCV003206579
ClinVar Variation:
2494579
dbSNP:
148800710
gnomAD v2:
17:35300109 C / A
gnomAD v3:
17:36942812 C / A
gnomAD v4:
chr17-36942812-C-A
Joint Max Group AF 0.00006404 (NFE)
Genomes Max Group AF 0.00003761 (NFE)
Exomes Max Group AF 0.00006332 (NFE)
MyVariant.info:
GRCh38 chr17:g.36942812C>A
GRCh37 chr17:g.35300109C>A
Revel Score:
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.36942812C>A , CM000679.2:g.36942812C>A GRCh38
NC_000017.10:g.35300109C>A , CM000679.1:g.35300109C>A GRCh37
NC_000017.9:g.32374222C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000614239.1:c.902C>A MANE Select ENSP00000477829.1:p.Pro301Gln
ENST00000621767.1:c.69-430C>A
NM_005568.4:c.902C>A NP_005559.2:p.Pro301Gln
NM_005568.5:c.902C>A MANE Select NP_005559.2:p.Pro301Gln
Search 100 bp 5'
Search 100 bp 3'