Canonical Allele Identifier: CA356737013

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 822462
• ClinVar RCV Id: RCV001017840 ; RCV001860878
• dbSNP Id: rs1577558774
• gnomAD v4: 4-41745907-G-C
• MyVariant Identifiers: chr4:g.41747924G>C (hg19) ; chr4:g.41745907G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745907G>C , CM000666.2:g.41745907G>C	GRCh38
NC_000004.11:g.41747924G>C , CM000666.1:g.41747924G>C	GRCh37
NC_000004.10:g.41442681G>C	NCBI36
NG_008243.1:g.8064C>G , LRG_513:g.8064C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.845C>G MANE Select	ENSP00000226382.2:p.Ser282Cys
ENST00000226382.3:c.845C>G	ENSP00000226382.2:p.Ser282Cys
NM_003924.3:c.845C>G , LRG_513t1:c.845C>G	NP_003915.2:p.Ser282Cys
NM_003924.4:c.845C>G MANE Select	NP_003915.2:p.Ser282Cys