Canonical Allele Identifier: CA210726
Gene: MC4R HGNC NCBI

Linked Data

ClinVar Variation Id: 14338
ClinVar RCV Id: RCV000015414
dbSNP Id: rs121913567
gnomAD v2: 18-58038927-G-A
MyVariant Identifiers: chr18:g.58038927G>A (hg19) chr18:g.60371694G>A (hg38)
PubMed: PMID:15486053
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371694G>A , CM000680.2:g.60371694G>A GRCh38
NC_000018.9:g.58038927G>A , CM000680.1:g.58038927G>A GRCh37
NC_000018.8:g.56189907G>A NCBI36
NG_016441.1:g.6075C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.656C>T MANE Select ENSP00000299766.3:p.Ala219Val
ENST00000299766.4:c.656C>T ENSP00000299766.3:p.Ala219Val
NM_005912.2:c.656C>T NP_005903.2:p.Ala219Val
NM_005912.3:c.656C>T MANE Select NP_005903.2:p.Ala219Val
Search 100 bp 5'
Search 100 bp 3'