Canonical Allele Identifier: CA2901499
Gene: PHOX2B HGNC NCBI

Linked Data

dbSNP Id: rs745523448
ExAC: 4:41748364 G / A
gnomAD v2: 4-41748364-G-A
gnomAD v3: 4-41746347-G-A
gnomAD v4: 4-41746347-G-A
MyVariant Identifiers: chr4:g.41748364G>A (hg19) chr4:g.41746347G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.41746347G>A , CM000666.2:g.41746347G>A GRCh38
NC_000004.11:g.41748364G>A , CM000666.1:g.41748364G>A GRCh37
NC_000004.10:g.41443121G>A NCBI36
NG_008243.1:g.7624C>T , LRG_513:g.7624C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000226382.4:c.430-25C>T MANE Select ENSP00000226382.2:n.430-25C>T
ENST00000226382.3:c.430-25C>T ENSP00000226382.2:n.430-25C>T
ENST00000510424.2:n.251-25C>T
NM_003924.3:c.430-25C>T , LRG_513t1:c.430-25C>T NP_003915.2:n.430-25C>T
NM_003924.4:c.430-25C>T MANE Select NP_003915.2:n.430-25C>T
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