Canonical Allele Identifier: CA177625

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 164943
• ClinVar RCV Id: RCV000151647 ; RCV000358376 ; RCV000303623 ; RCV000589447 ; RCV000562765 ; RCV001507141
• dbSNP Id: rs17885864
• ExAC: 4:41747899 G / T
• gnomAD v2: 4-41747899-G-T
• gnomAD v3: 4-41745882-G-T
• gnomAD v4: 4-41745882-G-T
• MyVariant Identifiers: chr4:g.41747899G>T (hg19) ; chr4:g.41745882G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745882G>T , CM000666.2:g.41745882G>T	GRCh38
NC_000004.11:g.41747899G>T , CM000666.1:g.41747899G>T	GRCh37
NC_000004.10:g.41442656G>T	NCBI36
NG_008243.1:g.8089C>A , LRG_513:g.8089C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.870C>A MANE Select	ENSP00000226382.2:p.Pro290=
ENST00000226382.3:c.870C>A	ENSP00000226382.2:p.Pro290=
NM_003924.3:c.870C>A , LRG_513t1:c.870C>A	NP_003915.2:p.Pro290=
NM_003924.4:c.870C>A MANE Select	NP_003915.2:p.Pro290=