Canonical Allele Identifier: CA356737122

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 467748
• ClinVar RCV Id: RCV000547484 ; RCV001027018 ; RCV003129903
• dbSNP Id: rs1260084723
• gnomAD v2: 4-41747973-C-A
• gnomAD v3: 4-41745956-C-A
• gnomAD v4: 4-41745956-C-A
• COSMIC: COSM3603892
• MyVariant Identifiers: chr4:g.41747973C>A (hg19) ; chr4:g.41745956C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745956C>A , CM000666.2:g.41745956C>A	GRCh38
NC_000004.11:g.41747973C>A , CM000666.1:g.41747973C>A	GRCh37
NC_000004.10:g.41442730C>A	NCBI36
NG_008243.1:g.8015G>T , LRG_513:g.8015G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.796G>T MANE Select	ENSP00000226382.2:p.Ala266Ser
ENST00000226382.3:c.796G>T	ENSP00000226382.2:p.Ala266Ser
NM_003924.3:c.796G>T , LRG_513t1:c.796G>T	NP_003915.2:p.Ala266Ser
NM_003924.4:c.796G>T MANE Select	NP_003915.2:p.Ala266Ser