Canonical Allele Identifier: CA4469617
Gene: LEP HGNC NCBI

Linked Data

ClinVar Variation Id: 358815
ClinVar RCV Id: RCV000262044 RCV000317286 RCV000733683 RCV003983029
dbSNP Id: rs201523305
ExAC: 7:127892092 C / T
gnomAD v2: 7-127892092-C-T
gnomAD v3: 7-128252039-C-T
gnomAD v4: 7-128252039-C-T
COSMIC: COSM3928809
MyVariant Identifiers: chr7:g.127892092C>T (hg19) chr7:g.128252039C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128252039C>T , CM000669.2:g.128252039C>T GRCh38
NC_000007.13:g.127892092C>T , CM000669.1:g.127892092C>T GRCh37
NC_000007.12:g.127679328C>T NCBI36
NG_007450.1:g.15762C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308868.5:c.21C>T MANE Select ENSP00000312652.4:p.Cys7=
ENST00000308868.4:c.21C>T ENSP00000312652.4:p.Cys7=
NM_000230.2:c.21C>T NP_000221.1:p.Cys7=
XM_005250340.3:c.21C>T XP_005250397.1:p.Cys7=
XM_005250340.5:c.21C>T XP_005250397.1:p.Cys7=
NM_000230.3:c.21C>T MANE Select NP_000221.1:p.Cys7=
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