Canonical Allele Identifier: CA210725
Gene: MC4R HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14336
dbSNP Id: rs13447331

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371970G>A , CM000680.2:g.60371970G>A GRCh38
NC_000018.9:g.58039203G>A , CM000680.1:g.58039203G>A GRCh37
NC_000018.8:g.56190183G>A NCBI36
NG_016441.1:g.5799C>T

Transcript Alleles

HGVS Amino-acid change
NM_005912.2:c.380C>T VV NP_005903.2:p.Ser127Leu
ENST00000299766.4:c.380C>T ENSP00000299766.3:p.Ser127Leu