Canonical Allele Identifier: CA2901525

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 467725
• ClinVar RCV Id: RCV001021436 ; RCV000536791 ; RCV003476288
• dbSNP Id: rs748614674
• ExAC: 4:41749404 G / C
• gnomAD v2: 4-41749404-G-C
• gnomAD v4: 4-41747387-G-C
• MyVariant Identifiers: chr4:g.41749404G>C (hg19) ; chr4:g.41747387G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41747387G>C , CM000666.2:g.41747387G>C	GRCh38
NC_000004.11:g.41749404G>C , CM000666.1:g.41749404G>C	GRCh37
NC_000004.10:g.41444161G>C	NCBI36
NG_008243.1:g.6584C>G , LRG_513:g.6584C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.391C>G MANE Select	ENSP00000226382.2:p.Leu131Val
ENST00000226382.3:c.391C>G	ENSP00000226382.2:p.Leu131Val
ENST00000510424.2:n.212C>G
NM_003924.3:c.391C>G , LRG_513t1:c.391C>G	NP_003915.2:p.Leu131Val
NM_003924.4:c.391C>G MANE Select	NP_003915.2:p.Leu131Val