Canonical Allele Identifier: CA2812704127
Gene: MC4R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371331A>C , CM000680.2:g.60371331A>C GRCh38
NC_000018.9:g.58038564A>C , CM000680.1:g.58038564A>C GRCh37
NC_000018.8:g.56189544A>C NCBI36
NG_016441.1:g.6438T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.*20T>G MANE Select ENSP00000299766.3:n.*20T>G
ENST00000299766.4:c.*20T>G ENSP00000299766.3:n.*20T>G
NM_005912.2:c.*20T>G NP_005903.2:n.*20T>G
NM_005912.3:c.*20T>G MANE Select NP_005903.2:n.*20T>G