Canonical Allele Identifier: CA577933454
Gene: LEP HGNC NCBI

Linked Data

dbSNP Id: rs1248745146
gnomAD v2: 7-127887360-C-A
gnomAD v3: 7-128247307-C-A
gnomAD v4: 7-128247307-C-A
MyVariant Identifiers: chr7:g.127887360C>A (hg19) chr7:g.128247307C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128247307C>A , CM000669.2:g.128247307C>A GRCh38
NC_000007.13:g.127887360C>A , CM000669.1:g.127887360C>A GRCh37
NC_000007.12:g.127674596C>A NCBI36
NG_007450.1:g.11030C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308868.5:c.-28-4684C>A MANE Select ENSP00000312652.4:n.-28-4684C>A
ENST00000308868.4:c.-28-4684C>A ENSP00000312652.4:n.-28-4684C>A
NM_000230.2:c.-28-4684C>A NP_000221.1:n.-28-4684C>A
XM_005250340.3:c.-28-4684C>A XP_005250397.1:n.-28-4684C>A
XM_005250340.5:c.-28-4684C>A XP_005250397.1:n.-28-4684C>A
NM_000230.3:c.-28-4684C>A MANE Select NP_000221.1:n.-28-4684C>A
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