Canonical Allele Identifier: CA2901496
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 757863
ClinVar RCV Id: RCV001461744
dbSNP Id: rs751132977
ExAC: 4:41748344 C / T
gnomAD v2: 4-41748344-C-T
gnomAD v4: 4-41746327-C-T
MyVariant Identifiers: chr4:g.41748344C>T (hg19) chr4:g.41746327C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746327C>T , CM000666.2:g.41746327C>T GRCh38
NC_000004.11:g.41748344C>T , CM000666.1:g.41748344C>T GRCh37
NC_000004.10:g.41443101C>T NCBI36
NG_008243.1:g.7644G>A , LRG_513:g.7644G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.430-5G>A MANE Select ENSP00000226382.2:n.430-5G>A
ENST00000226382.3:c.430-5G>A ENSP00000226382.2:n.430-5G>A
ENST00000510424.2:n.251-5G>A
NM_003924.3:c.430-5G>A , LRG_513t1:c.430-5G>A NP_003915.2:n.430-5G>A
NM_003924.4:c.430-5G>A MANE Select NP_003915.2:n.430-5G>A
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