Canonical Allele Identifier: CA10618742
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 348791
ClinVar RCV Id: RCV000289471 RCV000386658
dbSNP Id: rs560413438
gnomAD v2: 4-41746668-G-T
gnomAD v3: 4-41744651-G-T
gnomAD v4: 4-41744651-G-T
MyVariant Identifiers: chr4:g.41746668G>T (hg19) chr4:g.41744651G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41744651G>T , CM000666.2:g.41744651G>T GRCh38
NC_000004.11:g.41746668G>T , CM000666.1:g.41746668G>T GRCh37
NC_000004.10:g.41441425G>T NCBI36
NG_008243.1:g.9320C>A , LRG_513:g.9320C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.*1156C>A MANE Select ENSP00000226382.2:n.*1156C>A
ENST00000226382.3:c.*1156C>A ENSP00000226382.2:n.*1156C>A
NM_003924.3:c.*1156C>A , LRG_513t1:c.*1156C>A NP_003915.2:n.*1156C>A
NM_003924.4:c.*1156C>A MANE Select NP_003915.2:n.*1156C>A
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