Canonical Allele Identifier: CA356737396
Gene: PHOX2B HGNC NCBI

Linked Data

gnomAD v4: 4-41746066-G-A
MyVariant Identifiers: chr4:g.41748083G>A (hg19) chr4:g.41746066G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746066G>A , CM000666.2:g.41746066G>A GRCh38
NC_000004.11:g.41748083G>A , CM000666.1:g.41748083G>A GRCh37
NC_000004.10:g.41442840G>A NCBI36
NG_008243.1:g.7905C>T , LRG_513:g.7905C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.686C>T MANE Select ENSP00000226382.2:p.Pro229Leu
ENST00000226382.3:c.686C>T ENSP00000226382.2:p.Pro229Leu
ENST00000510424.2:n.507C>T
NM_003924.3:c.686C>T , LRG_513t1:c.686C>T NP_003915.2:p.Pro229Leu
NM_003924.4:c.686C>T MANE Select NP_003915.2:p.Pro229Leu
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