Canonical Allele Identifier: CA439142997
Gene: PHOX2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1088448
ClinVar RCV Id: RCV001406939 RCV002404955
dbSNP Id: rs772835924
gnomAD v4: 4-41745981-C-G
MyVariant Identifiers: chr4:g.41747998C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41745981C>G , CM000666.2:g.41745981C>G GRCh38
NC_000004.11:g.41747998C>G , CM000666.1:g.41747998C>G GRCh37
NC_000004.10:g.41442755C>G NCBI36
NG_008243.1:g.7990G>C , LRG_513:g.7990G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.771G>C MANE Select ENSP00000226382.2:p.Ala257=
ENST00000226382.3:c.771G>C ENSP00000226382.2:p.Ala257=
NM_003924.3:c.771G>C , LRG_513t1:c.771G>C NP_003915.2:p.Ala257=
NM_003924.4:c.771G>C MANE Select NP_003915.2:p.Ala257=
Search 100 bp 5'
Search 100 bp 3'