Canonical Allele Identifier: CA2901418

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 703550
• ClinVar RCV Id: RCV002416059 ; RCV003103864
• dbSNP Id: rs755927299
• ExAC: 4:41747977 A / G
• gnomAD v2: 4-41747977-A-G
• gnomAD v4: 4-41745960-A-G
• MyVariant Identifiers: chr4:g.41747977A>G (hg19) ; chr4:g.41745960A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745960A>G , CM000666.2:g.41745960A>G	GRCh38
NC_000004.11:g.41747977A>G , CM000666.1:g.41747977A>G	GRCh37
NC_000004.10:g.41442734A>G	NCBI36
NG_008243.1:g.8011T>C , LRG_513:g.8011T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.792T>C MANE Select	ENSP00000226382.2:p.Ala264=
ENST00000226382.3:c.792T>C	ENSP00000226382.2:p.Ala264=
NM_003924.3:c.792T>C , LRG_513t1:c.792T>C	NP_003915.2:p.Ala264=
NM_003924.4:c.792T>C MANE Select	NP_003915.2:p.Ala264=