Canonical Allele Identifier: CA439143326
Gene: PHOX2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.41748241A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746224A>C , CM000666.2:g.41746224A>C GRCh38
NC_000004.11:g.41748241A>C , CM000666.1:g.41748241A>C GRCh37
NC_000004.10:g.41442998A>C NCBI36
NG_008243.1:g.7747T>G , LRG_513:g.7747T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.528T>G MANE Select ENSP00000226382.2:p.Ser176=
ENST00000226382.3:c.528T>G ENSP00000226382.2:p.Ser176=
ENST00000510424.2:n.349T>G
NM_003924.3:c.528T>G , LRG_513t1:c.528T>G NP_003915.2:p.Ser176=
NM_003924.4:c.528T>G MANE Select NP_003915.2:p.Ser176=