Canonical Allele Identifier: CA95828659
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1122424
ClinVar RCV Id: RCV001453089
dbSNP Id: rs980457183
gnomAD v2: 4-41748345-C-G
gnomAD v3: 4-41746328-C-G
gnomAD v4: 4-41746328-C-G
MyVariant Identifiers: chr4:g.41748345C>G (hg19) chr4:g.41746328C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746328C>G , CM000666.2:g.41746328C>G GRCh38
NC_000004.11:g.41748345C>G , CM000666.1:g.41748345C>G GRCh37
NC_000004.10:g.41443102C>G NCBI36
NG_008243.1:g.7643G>C , LRG_513:g.7643G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.430-6G>C MANE Select ENSP00000226382.2:n.430-6G>C
ENST00000226382.3:c.430-6G>C ENSP00000226382.2:n.430-6G>C
ENST00000510424.2:n.251-6G>C
NM_003924.3:c.430-6G>C , LRG_513t1:c.430-6G>C NP_003915.2:n.430-6G>C
NM_003924.4:c.430-6G>C MANE Select NP_003915.2:n.430-6G>C
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