Canonical Allele Identifier: CA4469617

Gene: LEP

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)

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=