Canonical Allele Identifier: CA402719347
Gene: MC4R HGNC NCBI

Linked Data

dbSNP Id: rs1915344558
gnomAD v4: 18-60371695-C-T
COSMIC: COSM4555451
MyVariant Identifiers: chr18:g.58038928C>T (hg19) chr18:g.60371695C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371695C>T , CM000680.2:g.60371695C>T GRCh38
NC_000018.9:g.58038928C>T , CM000680.1:g.58038928C>T GRCh37
NC_000018.8:g.56189908C>T NCBI36
NG_016441.1:g.6074G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.655G>A MANE Select ENSP00000299766.3:p.Ala219Thr
ENST00000299766.4:c.655G>A ENSP00000299766.3:p.Ala219Thr
NM_005912.2:c.655G>A NP_005903.2:p.Ala219Thr
NM_005912.3:c.655G>A MANE Select NP_005903.2:p.Ala219Thr
Search 100 bp 5'
Search 100 bp 3'