Canonical Allele Identifier: CA504305545
Gene: MC4R HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.58039445G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60372212G>A , CM000680.2:g.60372212G>A GRCh38
NC_000018.9:g.58039445G>A , CM000680.1:g.58039445G>A GRCh37
NC_000018.8:g.56190425G>A NCBI36
NG_016441.1:g.5557C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.138C>T MANE Select ENSP00000299766.3:p.Val46=
ENST00000299766.4:c.138C>T ENSP00000299766.3:p.Val46=
NM_005912.2:c.138C>T NP_005903.2:p.Val46=
NM_005912.3:c.138C>T MANE Select NP_005903.2:p.Val46=