Canonical Allele Identifier: CA2642029294

Gene: MC4R

Linked Data

• gnomAD v4: 18-60371404-TCTCTTTGAAGGTTTTCCTCAGTTCTTGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.60371408_60371435del , CM000680.2:g.60371408_60371435del	GRCh38
NC_000018.9:g.58038641_58038668del , CM000680.1:g.58038641_58038668del	GRCh37
NC_000018.8:g.56189621_56189648del	NCBI36
NG_016441.1:g.6337_6364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299766.5:c.918_945del MANE Select	ENSP00000299766.3:p.Ser306ArgfsTer?
ENST00000299766.4:c.918_945del	ENSP00000299766.3:p.Ser306ArgfsTer?
NM_005912.2:c.918_945del	NP_005903.2:p.Ser306ArgfsTer?
NM_005912.3:c.918_945del MANE Select	NP_005903.2:p.Ser306ArgfsTer?