Canonical Allele Identifier: CA439142916
Gene: PHOX2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.41747938G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745921G>T , CM000666.2:g.41745921G>T GRCh38
NC_000004.11:g.41747938G>T , CM000666.1:g.41747938G>T GRCh37
NC_000004.10:g.41442695G>T NCBI36
NG_008243.1:g.8050C>A , LRG_513:g.8050C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.831C>A MANE Select ENSP00000226382.2:p.Pro277=
ENST00000226382.3:c.831C>A ENSP00000226382.2:p.Pro277=
NM_003924.3:c.831C>A , LRG_513t1:c.831C>A NP_003915.2:p.Pro277=
NM_003924.4:c.831C>A MANE Select NP_003915.2:p.Pro277=