Canonical Allele Identifier: CA10623183
Gene: LEP HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.128241296G>A
GRCh37 chr7:g.127881349G>A
gnomAD v2:
7:127881349 G / A
gnomAD v3:
7:128241296 G / A
gnomAD v4:
chr7-128241296-G-A
Joint Max Group AF 0.40357252 (AFR)
Genomes Max Group AF 0.40342876 (AFR)
Exomes Max Group AF 0.38881056 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128241296G>A , CM000669.2:g.128241296G>A GRCh38
NC_000007.13:g.127881349G>A , CM000669.1:g.127881349G>A GRCh37
NC_000007.12:g.127668585G>A NCBI36
NG_007450.1:g.5019G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308868.5:c.-39G>A MANE Select ENSP00000312652.4:n.-39G>A
ENST00000308868.4:c.-39G>A ENSP00000312652.4:n.-39G>A
NM_000230.2:c.-39G>A NP_000221.1:n.-39G>A
XM_005250340.3:c.-39G>A XP_005250397.1:n.-39G>A
XM_005250340.5:c.-39G>A XP_005250397.1:n.-39G>A
NM_000230.3:c.-39G>A MANE Select NP_000221.1:n.-39G>A
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