Canonical Allele Identifier: CA8980971
Gene: MC4R HGNC NCBI

Linked Data

dbSNP Id: rs777940806
ExAC: 18:58039420 C / A
gnomAD v2: 18-58039420-C-A
gnomAD v4: 18-60372187-C-A
MyVariant Identifiers: chr18:g.58039420C>A (hg19) chr18:g.60372187C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60372187C>A , CM000680.2:g.60372187C>A GRCh38
NC_000018.9:g.58039420C>A , CM000680.1:g.58039420C>A GRCh37
NC_000018.8:g.56190400C>A NCBI36
NG_016441.1:g.5582G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299766.5:c.163G>T MANE Select ENSP00000299766.3:p.Gly55Cys
ENST00000299766.4:c.163G>T ENSP00000299766.3:p.Gly55Cys
NM_005912.2:c.163G>T NP_005903.2:p.Gly55Cys
NM_005912.3:c.163G>T MANE Select NP_005903.2:p.Gly55Cys
Search 100 bp 5'
Search 100 bp 3'