Canonical Allele Identifier: CA12481970
Gene: LEP HGNC NCBI

Linked Data

dbSNP Id: rs4731426
gnomAD v2: 7-127882070-G-C
gnomAD v3: 7-128242017-G-C
gnomAD v4: 7-128242017-G-C
MyVariant Identifiers: chr7:g.127882070G>C (hg19) chr7:g.128242017G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.128242017G>C , CM000669.2:g.128242017G>C GRCh38
NC_000007.13:g.127882070G>C , CM000669.1:g.127882070G>C GRCh37
NC_000007.12:g.127669306G>C NCBI36
NG_007450.1:g.5740G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000308868.5:c.-29+711G>C MANE Select ENSP00000312652.4:n.-29+711G>C
ENST00000308868.4:c.-29+711G>C ENSP00000312652.4:n.-29+711G>C
NM_000230.2:c.-29+711G>C NP_000221.1:n.-29+711G>C
XM_005250340.3:c.-29+711G>C XP_005250397.1:n.-29+711G>C
XM_005250340.5:c.-29+711G>C XP_005250397.1:n.-29+711G>C
NM_000230.3:c.-29+711G>C MANE Select NP_000221.1:n.-29+711G>C
Search 100 bp 5'
Search 100 bp 3'