Canonical Allele Identifier: CA438978964
Gene: PHOX2B HGNC NCBI
MyVariant.info:
GRCh37 chr4:g.41749374G>T
gnomAD v4:
chr4-41747357-G-T
Joint Max Group AF 0.00000292 (NFE)
Exomes Max Group AF 0.0000031 (NFE)
ClinVar RCV:
RCV001466600
RCV002329548
ClinVar Variation:
1132405
dbSNP:
28939716
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41747357G>T , CM000666.2:g.41747357G>T GRCh38
NC_000004.11:g.41749374G>T , CM000666.1:g.41749374G>T GRCh37
NC_000004.10:g.41444131G>T NCBI36
NG_008243.1:g.6614C>A , LRG_513:g.6614C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.421C>A MANE Select ENSP00000226382.2:p.Arg141=
ENST00000226382.3:c.421C>A ENSP00000226382.2:p.Arg141=
ENST00000510424.2:n.242C>A
NM_003924.3:c.421C>A , LRG_513t1:c.421C>A NP_003915.2:p.Arg141=
NM_003924.4:c.421C>A MANE Select NP_003915.2:p.Arg141=
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