Canonical Allele Identifier: CA356738835
Gene: PHOX2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr4:g.41748328C>G (hg19) chr4:g.41746311C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746311C>G , CM000666.2:g.41746311C>G GRCh38
NC_000004.11:g.41748328C>G , CM000666.1:g.41748328C>G GRCh37
NC_000004.10:g.41443085C>G NCBI36
NG_008243.1:g.7660G>C , LRG_513:g.7660G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.441G>C MANE Select ENSP00000226382.2:p.Gln147His
ENST00000226382.3:c.441G>C ENSP00000226382.2:p.Gln147His
ENST00000510424.2:n.262G>C
NM_003924.3:c.441G>C , LRG_513t1:c.441G>C NP_003915.2:p.Gln147His
NM_003924.4:c.441G>C MANE Select NP_003915.2:p.Gln147His
Search 100 bp 5'
Search 100 bp 3'