Canonical Allele Identifier: CA2901413

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 860682
• ClinVar RCV Id: RCV003380839 ; RCV001067037
• dbSNP Id: rs765369462
• ExAC: 4:41747966 C / A
• gnomAD v2: 4-41747966-C-A
• gnomAD v4: 4-41745949-C-A
• MyVariant Identifiers: chr4:g.41747966C>A (hg19) ; chr4:g.41745949C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745949C>A , CM000666.2:g.41745949C>A	GRCh38
NC_000004.11:g.41747966C>A , CM000666.1:g.41747966C>A	GRCh37
NC_000004.10:g.41442723C>A	NCBI36
NG_008243.1:g.8022G>T , LRG_513:g.8022G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.803G>T MANE Select	ENSP00000226382.2:p.Gly268Val
ENST00000226382.3:c.803G>T	ENSP00000226382.2:p.Gly268Val
NM_003924.3:c.803G>T , LRG_513t1:c.803G>T	NP_003915.2:p.Gly268Val
NM_003924.4:c.803G>T MANE Select	NP_003915.2:p.Gly268Val