Canonical Allele Identifier: CA10623208
Gene: LEP HGNC NCBI

Linked Data

ClinVar Variation Id: 358841
ClinVar RCV Id: RCV000303288 RCV000346347
dbSNP Id: rs17617757
gnomAD v2: 7-127896869-G-A
gnomAD v3: 7-128256816-G-A
gnomAD v4: 7-128256816-G-A
MyVariant Identifiers: chr7:g.127896869G>A (hg19) chr7:g.128256816G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128256816G>A , CM000669.2:g.128256816G>A GRCh38
NC_000007.13:g.127896869G>A , CM000669.1:g.127896869G>A GRCh37
NC_000007.12:g.127684105G>A NCBI36
NG_007450.1:g.20539G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308868.5:c.*2053G>A MANE Select ENSP00000312652.4:n.*2053G>A
ENST00000308868.4:c.*2053G>A ENSP00000312652.4:n.*2053G>A
NM_000230.2:c.*2053G>A NP_000221.1:n.*2053G>A
XM_005250340.3:c.*2053G>A XP_005250397.1:n.*2053G>A
XM_005250340.5:c.*2053G>A XP_005250397.1:n.*2053G>A
NM_000230.3:c.*2053G>A MANE Select NP_000221.1:n.*2053G>A
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