Canonical Allele Identifier: CA2901498

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 1607775
• ClinVar RCV Id: RCV002162749
• dbSNP Id: rs780967053
• ExAC: 4:41748359 G / C
• gnomAD v2: 4-41748359-G-C
• gnomAD v3: 4-41746342-G-C
• gnomAD v4: 4-41746342-G-C
• MyVariant Identifiers: chr4:g.41748359G>C (hg19) ; chr4:g.41746342G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41746342G>C , CM000666.2:g.41746342G>C	GRCh38
NC_000004.11:g.41748359G>C , CM000666.1:g.41748359G>C	GRCh37
NC_000004.10:g.41443116G>C	NCBI36
NG_008243.1:g.7629C>G , LRG_513:g.7629C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.430-20C>G MANE Select	ENSP00000226382.2:n.430-20C>G
ENST00000226382.3:c.430-20C>G	ENSP00000226382.2:n.430-20C>G
ENST00000510424.2:n.251-20C>G
NM_003924.3:c.430-20C>G , LRG_513t1:c.430-20C>G	NP_003915.2:n.430-20C>G
NM_003924.4:c.430-20C>G MANE Select	NP_003915.2:n.430-20C>G