Canonical Allele Identifier: CA402719159
Gene: MC4R HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.58038834A>G (hg19) chr18:g.60371601A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371601A>G , CM000680.2:g.60371601A>G GRCh38
NC_000018.9:g.58038834A>G , CM000680.1:g.58038834A>G GRCh37
NC_000018.8:g.56189814A>G NCBI36
NG_016441.1:g.6168T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.749T>C MANE Select ENSP00000299766.3:p.Leu250Pro
ENST00000299766.4:c.749T>C ENSP00000299766.3:p.Leu250Pro
NM_005912.2:c.749T>C NP_005903.2:p.Leu250Pro
NM_005912.3:c.749T>C MANE Select NP_005903.2:p.Leu250Pro
Search 100 bp 5'
Search 100 bp 3'