Canonical Allele Identifier: CA1107007340
Gene: LEP HGNC NCBI

Linked Data

dbSNP Id: rs1795219966
gnomAD v3: 7-128247087-T-C
gnomAD v4: 7-128247087-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128247087T>C , CM000669.2:g.128247087T>C GRCh38
NC_000007.13:g.127887140T>C , CM000669.1:g.127887140T>C GRCh37
NC_000007.12:g.127674376T>C NCBI36
NG_007450.1:g.10810T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308868.5:c.-28-4904T>C MANE Select ENSP00000312652.4:n.-28-4904T>C
ENST00000308868.4:c.-28-4904T>C ENSP00000312652.4:n.-28-4904T>C
NM_000230.2:c.-28-4904T>C NP_000221.1:n.-28-4904T>C
XM_005250340.3:c.-28-4904T>C XP_005250397.1:n.-28-4904T>C
XM_005250340.5:c.-28-4904T>C XP_005250397.1:n.-28-4904T>C
NM_000230.3:c.-28-4904T>C MANE Select NP_000221.1:n.-28-4904T>C
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