Canonical Allele Identifier: CA8980800
Gene: MC4R HGNC NCBI

Linked Data

dbSNP Id: rs532881731
ExAC: 18:58038614 T / C
gnomAD v2: 18-58038614-T-C
gnomAD v3: 18-60371381-T-C
gnomAD v4: 18-60371381-T-C
MyVariant Identifiers: chr18:g.58038614T>C (hg19) chr18:g.60371381T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.60371381T>C , CM000680.2:g.60371381T>C GRCh38
NC_000018.9:g.58038614T>C , CM000680.1:g.58038614T>C GRCh37
NC_000018.8:g.56189594T>C NCBI36
NG_016441.1:g.6388A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299766.5:c.969A>G MANE Select ENSP00000299766.3:p.Gly323=
ENST00000299766.4:c.969A>G ENSP00000299766.3:p.Gly323=
NM_005912.2:c.969A>G NP_005903.2:p.Gly323=
NM_005912.3:c.969A>G MANE Select NP_005903.2:p.Gly323=
Search 100 bp 5'
Search 100 bp 3'