Canonical Allele Identifier: CA402719362
Gene: MC4R HGNC NCBI

Linked Data

gnomAD v4: 18-60371702-G-T
MyVariant Identifiers: chr18:g.58038935G>T (hg19) chr18:g.60371702G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371702G>T , CM000680.2:g.60371702G>T GRCh38
NC_000018.9:g.58038935G>T , CM000680.1:g.58038935G>T GRCh37
NC_000018.8:g.56189915G>T NCBI36
NG_016441.1:g.6067C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.648C>A MANE Select ENSP00000299766.3:p.Phe216Leu
ENST00000299766.4:c.648C>A ENSP00000299766.3:p.Phe216Leu
NM_005912.2:c.648C>A NP_005903.2:p.Phe216Leu
NM_005912.3:c.648C>A MANE Select NP_005903.2:p.Phe216Leu
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