Canonical Allele Identifier: CA10621097
Gene: PHOX2B HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.41745747C>T
GRCh37 chr4:g.41747764C>T
gnomAD v2:
4:41747764 C / T
gnomAD v3:
4:41745747 C / T
gnomAD v4:
chr4-41745747-C-T
Joint Max Group AF 0.00393884 (AFR)
Genomes Max Group AF 0.00360893 (AFR)
Exomes Max Group AF 0.00400786 (AFR)
ClinVar RCV:
RCV000285434
RCV000335743
ClinVar Variation:
348803
dbSNP:
558416040
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745747C>T , CM000666.2:g.41745747C>T GRCh38
NC_000004.11:g.41747764C>T , CM000666.1:g.41747764C>T GRCh37
NC_000004.10:g.41442521C>T NCBI36
NG_008243.1:g.8224G>A , LRG_513:g.8224G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.*60G>A MANE Select ENSP00000226382.2:n.*60G>A
ENST00000226382.3:c.*60G>A ENSP00000226382.2:n.*60G>A
NM_003924.3:c.*60G>A , LRG_513t1:c.*60G>A NP_003915.2:n.*60G>A
NM_003924.4:c.*60G>A MANE Select NP_003915.2:n.*60G>A
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