Canonical Allele Identifier: CA1555300

Gene: POMC

Linked Data

• ClinVar Variation Id: 451178
• ClinVar RCV Id: RCV000522801 ; RCV001139995 ; RCV001139996 ; RCV003905315
• dbSNP Id: rs201519174
• ExAC: 2:25384325 G / C
• gnomAD v2: 2-25384325-G-C
• gnomAD v3: 2-25161456-G-C
• gnomAD v4: 2-25161456-G-C
• MyVariant Identifiers: chr2:g.25384325G>C (hg19) ; chr2:g.25161456G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25161456G>C , CM000664.2:g.25161456G>C	GRCh38
NC_000002.11:g.25384325G>C , CM000664.1:g.25384325G>C	GRCh37
NC_000002.10:g.25237829G>C	NCBI36
NG_008997.1:g.12235C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000395826.7:c.429C>G MANE Select	ENSP00000379170.2:p.His143Gln
ENST00000264708.7:c.429C>G	ENSP00000264708.3:p.His143Gln
ENST00000380794.5:c.429C>G	ENSP00000370171.1:p.His143Gln
ENST00000395826.6:c.429C>G	ENSP00000379170.2:p.His143Gln
ENST00000405623.5:c.429C>G	ENSP00000384092.1:p.His143Gln
ENST00000449220.1:c.429C>G	ENSP00000387993.1:p.His143Gln
NM_000939.2:c.429C>G	NP_000930.1:p.His143Gln
NM_001035256.1:c.429C>G	NP_001030333.1:p.His143Gln
XM_011532917.1:c.429C>G	XP_011531219.1:p.His143Gln
NM_000939.3:c.429C>G	NP_000930.1:p.His143Gln
NM_001035256.2:c.429C>G	NP_001030333.1:p.His143Gln
NM_001319204.1:c.429C>G	NP_001306133.1:p.His143Gln
NM_001319205.1:c.429C>G	NP_001306134.1:p.His143Gln
NM_000939.4:c.429C>G MANE Select	NP_000930.1:p.His143Gln
NM_001319204.2:c.429C>G	NP_001306133.1:p.His143Gln
NM_001319205.2:c.429C>G	NP_001306134.1:p.His143Gln
NM_001035256.3:c.429C>G	NP_001030333.1:p.His143Gln