Canonical Allele Identifier: CA356737165

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 1346897
• ClinVar RCV Id: RCV002041532 ; RCV002397770
• dbSNP Id: rs2153112760
• gnomAD v4: 4-41745982-G-A
• MyVariant Identifiers: chr4:g.41747999G>A (hg19) ; chr4:g.41745982G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745982G>A , CM000666.2:g.41745982G>A	GRCh38
NC_000004.11:g.41747999G>A , CM000666.1:g.41747999G>A	GRCh37
NC_000004.10:g.41442756G>A	NCBI36
NG_008243.1:g.7989C>T , LRG_513:g.7989C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.770C>T MANE Select	ENSP00000226382.2:p.Ala257Val
ENST00000226382.3:c.770C>T	ENSP00000226382.2:p.Ala257Val
NM_003924.3:c.770C>T , LRG_513t1:c.770C>T	NP_003915.2:p.Ala257Val
NM_003924.4:c.770C>T MANE Select	NP_003915.2:p.Ala257Val