Canonical Allele Identifier: CA439143000
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 3223599
ClinVar RCV Id: RCV004511414
dbSNP Id: rs574093401
gnomAD v4: 4-41745984-T-G
MyVariant Identifiers: chr4:g.41748001T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745984T>G , CM000666.2:g.41745984T>G GRCh38
NC_000004.11:g.41748001T>G , CM000666.1:g.41748001T>G GRCh37
NC_000004.10:g.41442758T>G NCBI36
NG_008243.1:g.7987A>C , LRG_513:g.7987A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.768A>C MANE Select ENSP00000226382.2:p.Ala256=
ENST00000226382.3:c.768A>C ENSP00000226382.2:p.Ala256=
NM_003924.3:c.768A>C , LRG_513t1:c.768A>C NP_003915.2:p.Ala256=
NM_003924.4:c.768A>C MANE Select NP_003915.2:p.Ala256=
Search 100 bp 5'
Search 100 bp 3'