Canonical Allele Identifier: CA12481975
Gene: LEP HGNC NCBI
COSMIC:
COSN8871948 (not active)
MyVariant.info:
GRCh38 chr7:g.128254252G>A
GRCh37 chr7:g.127894305G>A
gnomAD v2:
7:127894305 G / A
gnomAD v3:
7:128254252 G / A
gnomAD v4:
chr7-128254252-G-A
Joint Max Group AF 0.75054342 (EAS)
Genomes Max Group AF 0.71523985 (EAS)
Exomes Max Group AF 0.75327241 (EAS)
ClinVar RCV:
RCV001656362
ClinVar Variation:
1247016
dbSNP:
3828942
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128254252G>A , CM000669.2:g.128254252G>A GRCh38
NC_000007.13:g.127894305G>A , CM000669.1:g.127894305G>A GRCh37
NC_000007.12:g.127681541G>A NCBI36
NG_007450.1:g.17975G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308868.5:c.145-152G>A MANE Select ENSP00000312652.4:n.145-152G>A
ENST00000308868.4:c.145-152G>A ENSP00000312652.4:n.145-152G>A
NM_000230.2:c.145-152G>A NP_000221.1:n.145-152G>A
XM_005250340.3:c.145-155G>A XP_005250397.1:n.145-155G>A
XM_005250340.5:c.145-155G>A XP_005250397.1:n.145-155G>A
NM_000230.3:c.145-152G>A MANE Select NP_000221.1:n.145-152G>A
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