Canonical Allele Identifier: CA356738420
Gene: PHOX2B HGNC NCBI

Linked Data

gnomAD v4: 4-41746240-G-T
MyVariant Identifiers: chr4:g.41748257G>T (hg19) chr4:g.41746240G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746240G>T , CM000666.2:g.41746240G>T GRCh38
NC_000004.11:g.41748257G>T , CM000666.1:g.41748257G>T GRCh37
NC_000004.10:g.41443014G>T NCBI36
NG_008243.1:g.7731C>A , LRG_513:g.7731C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.512C>A MANE Select ENSP00000226382.2:p.Ser171Tyr
ENST00000226382.3:c.512C>A ENSP00000226382.2:p.Ser171Tyr
ENST00000510424.2:n.333C>A
NM_003924.3:c.512C>A , LRG_513t1:c.512C>A NP_003915.2:p.Ser171Tyr
NM_003924.4:c.512C>A MANE Select NP_003915.2:p.Ser171Tyr
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