Canonical Allele Identifier: CA439142930

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 1092380
• ClinVar RCV Id: RCV001412189 ; RCV004038090
• dbSNP Id: rs1348881057
• gnomAD v2: 4-41748097-C-G
• gnomAD v4: 4-41746080-C-G
• MyVariant Identifiers: chr4:g.41748097C>G (hg19) ; chr4:g.41746080C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746080C>G , CM000666.2:g.41746080C>G	GRCh38
NC_000004.11:g.41748097C>G , CM000666.1:g.41748097C>G	GRCh37
NC_000004.10:g.41442854C>G	NCBI36
NG_008243.1:g.7891G>C , LRG_513:g.7891G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.672G>C MANE Select	ENSP00000226382.2:p.Pro224=
ENST00000226382.3:c.672G>C	ENSP00000226382.2:p.Pro224=
ENST00000510424.2:n.493G>C
NM_003924.3:c.672G>C , LRG_513t1:c.672G>C	NP_003915.2:p.Pro224=
NM_003924.4:c.672G>C MANE Select	NP_003915.2:p.Pro224=