Canonical Allele Identifier: CA356737205

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 1431039
• ClinVar RCV Id: RCV001948498 ; RCV002388882
• dbSNP Id: rs765803171
• gnomAD v4: 4-41746003-G-T
• MyVariant Identifiers: chr4:g.41748020G>T (hg19) ; chr4:g.41746003G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746003G>T , CM000666.2:g.41746003G>T	GRCh38
NC_000004.11:g.41748020G>T , CM000666.1:g.41748020G>T	GRCh37
NC_000004.10:g.41442777G>T	NCBI36
NG_008243.1:g.7968C>A , LRG_513:g.7968C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.749C>A MANE Select	ENSP00000226382.2:p.Ala250Glu
ENST00000226382.3:c.749C>A	ENSP00000226382.2:p.Ala250Glu
NM_003924.3:c.749C>A , LRG_513t1:c.749C>A	NP_003915.2:p.Ala250Glu
NM_003924.4:c.749C>A MANE Select	NP_003915.2:p.Ala250Glu