Canonical Allele Identifier: CA2901428
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 348809
ClinVar RCV Id: RCV000268582 RCV000323710 RCV001507229 RCV001026770 RCV003228923 RCV003151040
dbSNP Id: rs747626591
ExAC: 4:41747996 G / T
gnomAD v2: 4-41747996-G-T
gnomAD v3: 4-41745979-G-T
gnomAD v4: 4-41745979-G-T
MyVariant Identifiers: chr4:g.41747996G>T (hg19) chr4:g.41745979G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745979G>T , CM000666.2:g.41745979G>T GRCh38
NC_000004.11:g.41747996G>T , CM000666.1:g.41747996G>T GRCh37
NC_000004.10:g.41442753G>T NCBI36
NG_008243.1:g.7992C>A , LRG_513:g.7992C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.773C>A MANE Select ENSP00000226382.2:p.Ala258Glu
ENST00000226382.3:c.773C>A ENSP00000226382.2:p.Ala258Glu
NM_003924.3:c.773C>A , LRG_513t1:c.773C>A NP_003915.2:p.Ala258Glu
NM_003924.4:c.773C>A MANE Select NP_003915.2:p.Ala258Glu
Search 100 bp 5'
Search 100 bp 3'