Canonical Allele Identifier: CA402719220
Gene: MC4R HGNC NCBI

Linked Data

COSMIC: COSM5741285
MyVariant Identifiers: chr18:g.58038864T>A (hg19) chr18:g.60371631T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371631T>A , CM000680.2:g.60371631T>A GRCh38
NC_000018.9:g.58038864T>A , CM000680.1:g.58038864T>A GRCh37
NC_000018.8:g.56189844T>A NCBI36
NG_016441.1:g.6138A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.719A>T MANE Select ENSP00000299766.3:p.Asn240Ile
ENST00000299766.4:c.719A>T ENSP00000299766.3:p.Asn240Ile
NM_005912.2:c.719A>T NP_005903.2:p.Asn240Ile
NM_005912.3:c.719A>T MANE Select NP_005903.2:p.Asn240Ile
Search 100 bp 5'
Search 100 bp 3'