Canonical Allele Identifier: CA2901408

Gene: PHOX2B

Linked Data

• ClinVar Variation Id: 706761
• ClinVar RCV Id: RCV002235940 ; RCV002427227
• dbSNP Id: rs773606043
• ExAC: 4:41747938 G / C
• gnomAD v2: 4-41747938-G-C
• gnomAD v4: 4-41745921-G-C
• MyVariant Identifiers: chr4:g.41747938G>C (hg19) ; chr4:g.41745921G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.41745921G>C , CM000666.2:g.41745921G>C	GRCh38
NC_000004.11:g.41747938G>C , CM000666.1:g.41747938G>C	GRCh37
NC_000004.10:g.41442695G>C	NCBI36
NG_008243.1:g.8050C>G , LRG_513:g.8050C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000226382.4:c.831C>G MANE Select	ENSP00000226382.2:p.Pro277=
ENST00000226382.3:c.831C>G	ENSP00000226382.2:p.Pro277=
NM_003924.3:c.831C>G , LRG_513t1:c.831C>G	NP_003915.2:p.Pro277=
NM_003924.4:c.831C>G MANE Select	NP_003915.2:p.Pro277=