Canonical Allele Identifier: CA356736989
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 535774
ClinVar RCV Id: RCV000643949 RCV000764534 RCV003380658
dbSNP Id: rs1462459716
gnomAD v2: 4-41747918-G-C
gnomAD v4: 4-41745901-G-C
MyVariant Identifiers: chr4:g.41747918G>C (hg19) chr4:g.41745901G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745901G>C , CM000666.2:g.41745901G>C GRCh38
NC_000004.11:g.41747918G>C , CM000666.1:g.41747918G>C GRCh37
NC_000004.10:g.41442675G>C NCBI36
NG_008243.1:g.8070C>G , LRG_513:g.8070C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.851C>G MANE Select ENSP00000226382.2:p.Pro284Arg
ENST00000226382.3:c.851C>G ENSP00000226382.2:p.Pro284Arg
NM_003924.3:c.851C>G , LRG_513t1:c.851C>G NP_003915.2:p.Pro284Arg
NM_003924.4:c.851C>G MANE Select NP_003915.2:p.Pro284Arg
Search 100 bp 5'
Search 100 bp 3'