Canonical Allele Identifier: CA8980987
Gene: MC4R HGNC NCBI

Linked Data

dbSNP Id: rs545718295
ExAC: 18:58039492 G / A
gnomAD v3: 18-60372259-G-A
gnomAD v4: 18-60372259-G-A
MyVariant Identifiers: chr18:g.58039492G>A (hg19) chr18:g.60372259G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60372259G>A , CM000680.2:g.60372259G>A GRCh38
NC_000018.9:g.58039492G>A , CM000680.1:g.58039492G>A GRCh37
NC_000018.8:g.56190472G>A NCBI36
NG_016441.1:g.5510C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.91C>T MANE Select ENSP00000299766.3:p.Leu31Phe
ENST00000299766.4:c.91C>T ENSP00000299766.3:p.Leu31Phe
NM_005912.2:c.91C>T NP_005903.2:p.Leu31Phe
NM_005912.3:c.91C>T MANE Select NP_005903.2:p.Leu31Phe
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