Canonical Allele Identifier: CA843307012
Gene: NXPH1 HGNC NCBI

Linked Data

dbSNP Id: rs2349775
gnomAD v3: 7-8678450-G-C
gnomAD v4: 7-8678450-G-C
MyVariant Identifiers: chr7:g.8718080G>C (hg19) chr7:g.8678450G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.8678450G>C , CM000669.2:g.8678450G>C GRCh38
NC_000007.13:g.8718080G>C , CM000669.1:g.8718080G>C GRCh37
NC_000007.12:g.8684605G>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000405863.6:c.55-72558G>C MANE Select ENSP00000384551.1:n.55-72558G>C
ENST00000405863.5:c.55-72558G>C ENSP00000384551.1:n.55-72558G>C
ENST00000429542.1:c.55-72558G>C ENSP00000408216.1:n.55-72558G>C
ENST00000438764.1:c.55-72558G>C ENSP00000404689.1:n.55-72558G>C
NM_152745.2:c.55-72558G>C NP_689958.1:n.55-72558G>C
XM_011515332.1:c.105+2820G>C XP_011513634.1:n.105+2820G>C
NM_152745.3:c.55-72558G>C MANE Select NP_689958.1:n.55-72558G>C
Search 100 bp 5'
Search 100 bp 3'