Canonical Allele Identifier: CA504305054

Gene: MC4R

Linked Data

• dbSNP Id: rs1405499472
• MyVariant Identifiers: chr18:g.58038656C>A (hg19) ; chr18:g.60371423C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.60371423C>A , CM000680.2:g.60371423C>A	GRCh38
NC_000018.9:g.58038656C>A , CM000680.1:g.58038656C>A	GRCh37
NC_000018.8:g.56189636C>A	NCBI36
NG_016441.1:g.6346G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299766.5:c.927G>T MANE Select	ENSP00000299766.3:p.Leu309=
ENST00000299766.4:c.927G>T	ENSP00000299766.3:p.Leu309=
NM_005912.2:c.927G>T	NP_005903.2:p.Leu309=
NM_005912.3:c.927G>T MANE Select	NP_005903.2:p.Leu309=