Canonical Allele Identifier: CA4469738

Gene: LEP

Linked Data

• ClinVar Variation Id: 358820
• ClinVar RCV Id: RCV000345134 ; RCV000394362 ; RCV001554897
• dbSNP Id: rs28954114
• ExAC: 7:127894850 G / A
• gnomAD v2: 7-127894850-G-A
• gnomAD v3: 7-128254797-G-A
• gnomAD v4: 7-128254797-G-A
• MyVariant Identifiers: chr7:g.127894850G>A (hg19) ; chr7:g.128254797G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128254797G>A , CM000669.2:g.128254797G>A	GRCh38
NC_000007.13:g.127894850G>A , CM000669.1:g.127894850G>A	GRCh37
NC_000007.12:g.127682086G>A	NCBI36
NG_007450.1:g.18520G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308868.5:c.*34G>A MANE Select	ENSP00000312652.4:n.*34G>A
ENST00000308868.4:c.*34G>A	ENSP00000312652.4:n.*34G>A
NM_000230.2:c.*34G>A	NP_000221.1:n.*34G>A
XM_005250340.3:c.*34G>A	XP_005250397.1:n.*34G>A
XM_005250340.5:c.*34G>A	XP_005250397.1:n.*34G>A
NM_000230.3:c.*34G>A MANE Select	NP_000221.1:n.*34G>A