Canonical Allele Identifier: CA8513861
Gene: LHX1 HGNC NCBI
ClinVar RCV:
RCV003175044
ClinVar Variation:
2463225
dbSNP:
150197430
gnomAD v2:
17:35300318 G / A
gnomAD v3:
17:36943021 G / A
gnomAD v4:
chr17-36943021-G-A
Joint Max Group AF 0.00024269 (AFR)
Genomes Max Group AF 0.00027976 (AFR)
Exomes Max Group AF 0.00011849 (AFR)
MyVariant.info:
GRCh38 chr17:g.36943021G>A
GRCh37 chr17:g.35300318G>A
Revel Score:
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.36943021G>A , CM000679.2:g.36943021G>A GRCh38
NC_000017.10:g.35300318G>A , CM000679.1:g.35300318G>A GRCh37
NC_000017.9:g.32374431G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000614239.1:c.1111G>A MANE Select ENSP00000477829.1:p.Glu371Lys
ENST00000621767.1:c.69-221G>A
NM_005568.4:c.1111G>A NP_005559.2:p.Glu371Lys
NM_005568.5:c.1111G>A MANE Select NP_005559.2:p.Glu371Lys
Search 100 bp 5'
Search 100 bp 3'