Canonical Allele Identifier: CA356738307
Gene: PHOX2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.41748238G>C (hg19) chr4:g.41746221G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746221G>C , CM000666.2:g.41746221G>C GRCh38
NC_000004.11:g.41748238G>C , CM000666.1:g.41748238G>C GRCh37
NC_000004.10:g.41442995G>C NCBI36
NG_008243.1:g.7750C>G , LRG_513:g.7750C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.531C>G MANE Select ENSP00000226382.2:p.Asp177Glu
ENST00000226382.3:c.531C>G ENSP00000226382.2:p.Asp177Glu
ENST00000510424.2:n.352C>G
NM_003924.3:c.531C>G , LRG_513t1:c.531C>G NP_003915.2:p.Asp177Glu
NM_003924.4:c.531C>G MANE Select NP_003915.2:p.Asp177Glu
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