Canonical Allele Identifier: CA256770
Gene: POMC HGNC NCBI
ClinVar RCV:
RCV000014283
RCV002482865
RCV003556013
ClinVar Variation:
13355
dbSNP:
753856820
gnomAD v2:
2:25387652 G / T
gnomAD v3:
2:25164783 G / T
gnomAD v4:
chr2-25164783-G-T
Joint Max Group AF 0.00002585 (NFE)
Genomes Max Group AF 0.0000117 (NFE)
Exomes Max Group AF 0.0000254 (NFE)
MyVariant.info:
GRCh38 chr2:g.25164783G>T
GRCh37 chr2:g.25387652G>T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25164783G>T , CM000664.2:g.25164783G>T GRCh38
NC_000002.11:g.25387652G>T , CM000664.1:g.25387652G>T GRCh37
NC_000002.10:g.25241156G>T NCBI36
NG_008997.1:g.8908C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000395826.7:c.-11C>A MANE Select ENSP00000379170.2:n.-11C>A
ENST00000264708.7:c.-11C>A ENSP00000264708.3:n.-11C>A
ENST00000380794.5:c.-11C>A ENSP00000370171.1:n.-11C>A
ENST00000395826.6:c.-11C>A ENSP00000379170.2:n.-11C>A
ENST00000405623.5:c.-11C>A ENSP00000384092.1:n.-11C>A
ENST00000449220.1:c.-11C>A ENSP00000387993.1:n.-11C>A
NM_000939.2:c.-11C>A NP_000930.1:n.-11C>A
NM_001035256.1:c.-11C>A NP_001030333.1:n.-11C>A
XM_011532917.1:c.-11C>A XP_011531219.1:n.-11C>A
NM_000939.3:c.-11C>A NP_000930.1:n.-11C>A
NM_001035256.2:c.-11C>A NP_001030333.1:n.-11C>A
NM_001319204.1:c.-11C>A NP_001306133.1:n.-11C>A
NM_001319205.1:c.-11C>A NP_001306134.1:n.-11C>A
NM_000939.4:c.-11C>A MANE Select NP_000930.1:n.-11C>A
NM_001319204.2:c.-11C>A NP_001306133.1:n.-11C>A
NM_001319205.2:c.-11C>A NP_001306134.1:n.-11C>A
NM_001035256.3:c.-11C>A NP_001030333.1:n.-11C>A
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