Canonical Allele Identifier: CA2901417

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 581301
• ClinVar RCV Id: RCV002406644 ; RCV002232978
• dbSNP Id: rs745709595
• ExAC: 4:41747972 G / A
• gnomAD v2: 4-41747972-G-A
• gnomAD v4: 4-41745955-G-A
• MyVariant Identifiers: chr4:g.41747972G>A (hg19) ; chr4:g.41745955G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745955G>A , CM000666.2:g.41745955G>A	GRCh38
NC_000004.11:g.41747972G>A , CM000666.1:g.41747972G>A	GRCh37
NC_000004.10:g.41442729G>A	NCBI36
NG_008243.1:g.8016C>T , LRG_513:g.8016C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.797C>T MANE Select	ENSP00000226382.2:p.Ala266Val
ENST00000226382.3:c.797C>T	ENSP00000226382.2:p.Ala266Val
NM_003924.3:c.797C>T , LRG_513t1:c.797C>T	NP_003915.2:p.Ala266Val
NM_003924.4:c.797C>T MANE Select	NP_003915.2:p.Ala266Val