Canonical Allele Identifier: CA504305199
Gene: MC4R HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.58038749C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371516C>G , CM000680.2:g.60371516C>G GRCh38
NC_000018.9:g.58038749C>G , CM000680.1:g.58038749C>G GRCh37
NC_000018.8:g.56189729C>G NCBI36
NG_016441.1:g.6253G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.834G>C MANE Select ENSP00000299766.3:p.Val278=
ENST00000299766.4:c.834G>C ENSP00000299766.3:p.Val278=
NM_005912.2:c.834G>C NP_005903.2:p.Val278=
NM_005912.3:c.834G>C MANE Select NP_005903.2:p.Val278=