Canonical Allele Identifier: CA10628237
Gene: LEP HGNC NCBI

Linked Data

ClinVar Variation Id: 358827
ClinVar RCV Id: RCV000325958 RCV000382931
dbSNP Id: rs17151922
gnomAD v2: 7-127895216-G-T
gnomAD v3: 7-128255163-G-T
gnomAD v4: 7-128255163-G-T
MyVariant Identifiers: chr7:g.127895216G>T (hg19) chr7:g.128255163G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128255163G>T , CM000669.2:g.128255163G>T GRCh38
NC_000007.13:g.127895216G>T , CM000669.1:g.127895216G>T GRCh37
NC_000007.12:g.127682452G>T NCBI36
NG_007450.1:g.18886G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000308868.5:c.*400G>T MANE Select ENSP00000312652.4:n.*400G>T
ENST00000308868.4:c.*400G>T ENSP00000312652.4:n.*400G>T
NM_000230.2:c.*400G>T NP_000221.1:n.*400G>T
XM_005250340.3:c.*400G>T XP_005250397.1:n.*400G>T
XM_005250340.5:c.*400G>T XP_005250397.1:n.*400G>T
NM_000230.3:c.*400G>T MANE Select NP_000221.1:n.*400G>T
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