Canonical Allele Identifier: CA10618743
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 348792
ClinVar RCV Id: RCV000325743 RCV000384918
dbSNP Id: rs118046131
gnomAD v2: 4-41746698-G-C
gnomAD v3: 4-41744681-G-C
gnomAD v4: 4-41744681-G-C
MyVariant Identifiers: chr4:g.41746698G>C (hg19) chr4:g.41744681G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41744681G>C , CM000666.2:g.41744681G>C GRCh38
NC_000004.11:g.41746698G>C , CM000666.1:g.41746698G>C GRCh37
NC_000004.10:g.41441455G>C NCBI36
NG_008243.1:g.9290C>G , LRG_513:g.9290C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.*1126C>G MANE Select ENSP00000226382.2:n.*1126C>G
ENST00000226382.3:c.*1126C>G ENSP00000226382.2:n.*1126C>G
NM_003924.3:c.*1126C>G , LRG_513t1:c.*1126C>G NP_003915.2:n.*1126C>G
NM_003924.4:c.*1126C>G MANE Select NP_003915.2:n.*1126C>G
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