Canonical Allele Identifier: CA2901411
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1080257
ClinVar RCV Id: RCV001395820 RCV002413935
dbSNP Id: rs754362364
ExAC: 4:41747944 G / C
gnomAD v2: 4-41747944-G-C
gnomAD v3: 4-41745927-G-C
gnomAD v4: 4-41745927-G-C
MyVariant Identifiers: chr4:g.41747944G>C (hg19) chr4:g.41745927G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745927G>C , CM000666.2:g.41745927G>C GRCh38
NC_000004.11:g.41747944G>C , CM000666.1:g.41747944G>C GRCh37
NC_000004.10:g.41442701G>C NCBI36
NG_008243.1:g.8044C>G , LRG_513:g.8044C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.825C>G MANE Select ENSP00000226382.2:p.Pro275=
ENST00000226382.3:c.825C>G ENSP00000226382.2:p.Pro275=
NM_003924.3:c.825C>G , LRG_513t1:c.825C>G NP_003915.2:p.Pro275=
NM_003924.4:c.825C>G MANE Select NP_003915.2:p.Pro275=
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