Canonical Allele Identifier: CA439143061

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 703424
• ClinVar RCV Id: RCV000873023 ; RCV002381990 ; RCV003965756
• dbSNP Id: rs758533453
• gnomAD v3: 4-41746008-C-G
• gnomAD v4: 4-41746008-C-G
• MyVariant Identifiers: chr4:g.41748025C>G (hg19) ; chr4:g.41746008C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746008C>G , CM000666.2:g.41746008C>G	GRCh38
NC_000004.11:g.41748025C>G , CM000666.1:g.41748025C>G	GRCh37
NC_000004.10:g.41442782C>G	NCBI36
NG_008243.1:g.7963G>C , LRG_513:g.7963G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.744G>C MANE Select	ENSP00000226382.2:p.Ala248=
ENST00000226382.3:c.744G>C	ENSP00000226382.2:p.Ala248=
NM_003924.3:c.744G>C , LRG_513t1:c.744G>C	NP_003915.2:p.Ala248=
NM_003924.4:c.744G>C MANE Select	NP_003915.2:p.Ala248=