Canonical Allele Identifier: CA16611540
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 413918
ClinVar RCV Id: RCV000461354 RCV003915289
dbSNP Id: rs1064792993
gnomAD v2: 4-41748025-CGCGGCCGCCGCCGCTGCTGCT-C
gnomAD v3: 4-41746008-CGCGGCCGCCGCCGCTGCTGCT-C
gnomAD v4: 4-41746008-CGCGGCCGCCGCCGCTGCTGCT-C
MyVariant Identifiers: chr4:g.41748026_41748046del (hg19) chr4:g.41746009_41746029del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746012_41746032del , CM000666.2:g.41746012_41746032del GRCh38
NC_000004.11:g.41748029_41748049del , CM000666.1:g.41748029_41748049del GRCh37
NC_000004.10:g.41442786_41442806del NCBI36
NG_008243.1:g.7942_7962del , LRG_513:g.7942_7962del

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.723_743del MANE Select ENSP00000226382.2:p.Ala242_Ala248del
ENST00000226382.3:c.723_743del ENSP00000226382.2:p.Ala242_Ala248del
NM_003924.3:c.723_743del , LRG_513t1:c.723_743del NP_003915.2:p.Ala242_Ala248del
NM_003924.4:c.723_743del MANE Select NP_003915.2:p.Ala242_Ala248del
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