Canonical Allele Identifier: CA356738678
Gene: PHOX2B HGNC NCBI

Linked Data

gnomAD v4: 4-41746281-C-G
MyVariant Identifiers: chr4:g.41748298C>G (hg19) chr4:g.41746281C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746281C>G , CM000666.2:g.41746281C>G GRCh38
NC_000004.11:g.41748298C>G , CM000666.1:g.41748298C>G GRCh37
NC_000004.10:g.41443055C>G NCBI36
NG_008243.1:g.7690G>C , LRG_513:g.7690G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.471G>C MANE Select ENSP00000226382.2:p.Glu157Asp
ENST00000226382.3:c.471G>C ENSP00000226382.2:p.Glu157Asp
ENST00000510424.2:n.292G>C
NM_003924.3:c.471G>C , LRG_513t1:c.471G>C NP_003915.2:p.Glu157Asp
NM_003924.4:c.471G>C MANE Select NP_003915.2:p.Glu157Asp
Search 100 bp 5'
Search 100 bp 3'