Canonical Allele Identifier: CA402720435
Gene: MC4R HGNC NCBI

Linked Data

dbSNP Id: rs1473006541
gnomAD v2: 18-58039437-T-G
gnomAD v4: 18-60372204-T-G
MyVariant Identifiers: chr18:g.58039437T>G (hg19) chr18:g.60372204T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60372204T>G , CM000680.2:g.60372204T>G GRCh38
NC_000018.9:g.58039437T>G , CM000680.1:g.58039437T>G GRCh37
NC_000018.8:g.56190417T>G NCBI36
NG_016441.1:g.5565A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.146A>C MANE Select ENSP00000299766.3:p.Glu49Ala
ENST00000299766.4:c.146A>C ENSP00000299766.3:p.Glu49Ala
NM_005912.2:c.146A>C NP_005903.2:p.Glu49Ala
NM_005912.3:c.146A>C MANE Select NP_005903.2:p.Glu49Ala
Search 100 bp 5'
Search 100 bp 3'