Canonical Allele Identifier: CA2901428

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 348809
• ClinVar RCV Id: RCV000268582 ; RCV000323710 ; RCV001507229 ; RCV001026770 ; RCV003228923 ; RCV003151040
• dbSNP Id: rs747626591
• ExAC: 4:41747996 G / T
• gnomAD v2: 4-41747996-G-T
• gnomAD v3: 4-41745979-G-T
• gnomAD v4: 4-41745979-G-T
• MyVariant Identifiers: chr4:g.41747996G>T (hg19) ; chr4:g.41745979G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745979G>T , CM000666.2:g.41745979G>T	GRCh38
NC_000004.11:g.41747996G>T , CM000666.1:g.41747996G>T	GRCh37
NC_000004.10:g.41442753G>T	NCBI36
NG_008243.1:g.7992C>A , LRG_513:g.7992C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.773C>A MANE Select	ENSP00000226382.2:p.Ala258Glu
ENST00000226382.3:c.773C>A	ENSP00000226382.2:p.Ala258Glu
NM_003924.3:c.773C>A , LRG_513t1:c.773C>A	NP_003915.2:p.Ala258Glu
NM_003924.4:c.773C>A MANE Select	NP_003915.2:p.Ala258Glu