Canonical Allele Identifier: CA356737149
Gene: PHOX2B HGNC NCBI

Linked Data

gnomAD v4: 4-41745971-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745971C>T , CM000666.2:g.41745971C>T GRCh38
NC_000004.11:g.41747988C>T , CM000666.1:g.41747988C>T GRCh37
NC_000004.10:g.41442745C>T NCBI36
NG_008243.1:g.8000G>A , LRG_513:g.8000G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.781G>A MANE Select ENSP00000226382.2:p.Gly261Arg
ENST00000226382.3:c.781G>A ENSP00000226382.2:p.Gly261Arg
NM_003924.3:c.781G>A , LRG_513t1:c.781G>A NP_003915.2:p.Gly261Arg
NM_003924.4:c.781G>A MANE Select NP_003915.2:p.Gly261Arg