Canonical Allele Identifier: CA356741227
Gene: PHOX2B HGNC NCBI
PHOX2B-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 467731
ClinVar RCV Id: RCV002350295 RCV003476289 RCV002231822
dbSNP Id: rs1353983410
gnomAD v2: 4-41750572-G-C
gnomAD v4: 4-41748555-G-C
MyVariant Identifiers: chr4:g.41750572G>C (hg19) chr4:g.41748555G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41748555G>C , CM000666.2:g.41748555G>C GRCh38
NC_000004.11:g.41750572G>C , CM000666.1:g.41750572G>C GRCh37
NC_000004.10:g.41445329G>C NCBI36
NG_008243.1:g.5416C>G , LRG_513:g.5416C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.56C>G (PHOX2B) MANE Select ENSP00000226382.2:p.Ala19Gly
ENST00000226382.3:c.56C>G (PHOX2B) ENSP00000226382.2:p.Ala19Gly
NM_003924.3:c.56C>G , LRG_513t1:c.56C>G (PHOX2B) NP_003915.2:p.Ala19Gly
XR_001741668.1:n.263G>C (PHOX2B-AS1)
XR_001741669.1:n.263G>C (PHOX2B-AS1)
XR_001741670.1:n.263G>C (PHOX2B-AS1)
XR_001741671.1:n.263G>C (PHOX2B-AS1)
XR_925256.2:n.263G>C (PHOX2B-AS1)
NM_003924.4:c.56C>G (PHOX2B) MANE Select NP_003915.2:p.Ala19Gly
Search 100 bp 5'
Search 100 bp 3'