Canonical Allele Identifier: CA439142888
Gene: PHOX2B HGNC NCBI

Linked Data

gnomAD v4: 4-41745900-C-T
COSMIC: COSM5537011
MyVariant Identifiers: chr4:g.41747917C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745900C>T , CM000666.2:g.41745900C>T GRCh38
NC_000004.11:g.41747917C>T , CM000666.1:g.41747917C>T GRCh37
NC_000004.10:g.41442674C>T NCBI36
NG_008243.1:g.8071G>A , LRG_513:g.8071G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.852G>A MANE Select ENSP00000226382.2:p.Pro284=
ENST00000226382.3:c.852G>A ENSP00000226382.2:p.Pro284=
NM_003924.3:c.852G>A , LRG_513t1:c.852G>A NP_003915.2:p.Pro284=
NM_003924.4:c.852G>A MANE Select NP_003915.2:p.Pro284=
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Search 100 bp 3'