Canonical Allele Identifier: CA166743911
Gene: LEP HGNC NCBI

Linked Data

dbSNP Id: rs571871678
gnomAD v2: 7-127888888-C-G
gnomAD v3: 7-128248835-C-G
gnomAD v4: 7-128248835-C-G
MyVariant Identifiers: chr7:g.127888888C>G (hg19) chr7:g.128248835C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128248835C>G , CM000669.2:g.128248835C>G GRCh38
NC_000007.13:g.127888888C>G , CM000669.1:g.127888888C>G GRCh37
NC_000007.12:g.127676124C>G NCBI36
NG_007450.1:g.12558C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000308868.5:c.-28-3156C>G MANE Select ENSP00000312652.4:n.-28-3156C>G
ENST00000308868.4:c.-28-3156C>G ENSP00000312652.4:n.-28-3156C>G
NM_000230.2:c.-28-3156C>G NP_000221.1:n.-28-3156C>G
XM_005250340.3:c.-28-3156C>G XP_005250397.1:n.-28-3156C>G
XM_005250340.5:c.-28-3156C>G XP_005250397.1:n.-28-3156C>G
NM_000230.3:c.-28-3156C>G MANE Select NP_000221.1:n.-28-3156C>G
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