Canonical Allele Identifier: CA10623206
Gene: LEP HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.128256483A>G
GRCh37 chr7:g.127896536A>G
gnomAD v2:
7:127896536 A / G
gnomAD v3:
7:128256483 A / G
gnomAD v4:
chr7-128256483-A-G
Joint Max Group AF 0.99275225 (NFE)
Genomes Max Group AF 0.99274895 (NFE)
Exomes Max Group AF 0.77929423 (NFE)
ClinVar RCV:
RCV000279850
RCV000404055
ClinVar Variation:
358839
dbSNP:
10954174
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128256483A>G , CM000669.2:g.128256483A>G GRCh38
NC_000007.13:g.127896536A>G , CM000669.1:g.127896536A>G GRCh37
NC_000007.12:g.127683772A>G NCBI36
NG_007450.1:g.20206A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000308868.5:c.*1720A>G MANE Select ENSP00000312652.4:n.*1720A>G
ENST00000308868.4:c.*1720A>G ENSP00000312652.4:n.*1720A>G
NM_000230.2:c.*1720A>G NP_000221.1:n.*1720A>G
XM_005250340.3:c.*1720A>G XP_005250397.1:n.*1720A>G
XM_005250340.5:c.*1720A>G XP_005250397.1:n.*1720A>G
NM_000230.3:c.*1720A>G MANE Select NP_000221.1:n.*1720A>G
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