Canonical Allele Identifier: CA10628239
Gene: LEP HGNC NCBI

Linked Data

ClinVar Variation Id: 358845
ClinVar RCV Id: RCV000274586 RCV000317975
dbSNP Id: rs11761556
gnomAD v2: 7-127897069-C-A
gnomAD v3: 7-128257016-C-A
gnomAD v4: 7-128257016-C-A
MyVariant Identifiers: chr7:g.127897069C>A (hg19) chr7:g.128257016C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128257016C>A , CM000669.2:g.128257016C>A GRCh38
NC_000007.13:g.127897069C>A , CM000669.1:g.127897069C>A GRCh37
NC_000007.12:g.127684305C>A NCBI36
NG_007450.1:g.20739C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308868.5:c.*2253C>A MANE Select ENSP00000312652.4:n.*2253C>A
ENST00000308868.4:c.*2253C>A ENSP00000312652.4:n.*2253C>A
NM_000230.2:c.*2253C>A NP_000221.1:n.*2253C>A
XM_005250340.3:c.*2253C>A XP_005250397.1:n.*2253C>A
XM_005250340.5:c.*2253C>A XP_005250397.1:n.*2253C>A
NM_000230.3:c.*2253C>A MANE Select NP_000221.1:n.*2253C>A
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