Canonical Allele Identifier: CA214148

Gene: MC4R

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.60371520_60371521dup , CM000680.2:g.60371520_60371521dup	GRCh38
NC_000018.9:g.58038753_58038754dup , CM000680.1:g.58038753_58038754dup	GRCh37
NC_000018.8:g.56189733_56189734dup	NCBI36
NG_016441.1:g.6254_6255dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299766.5:c.835_836dup MANE Select	ENSP00000299766.3:p.Phe280AlafsTer12
ENST00000299766.4:c.835_836dup	ENSP00000299766.3:p.Phe280AlafsTer12
NM_005912.2:c.835_836dup	NP_005903.2:p.Phe280AlafsTer12
NM_005912.3:c.835_836dup MANE Select	NP_005903.2:p.Phe280AlafsTer12