Canonical Allele Identifier: CA2621910
Gene: NPHP3 HGNC NCBI
NPHP3-ACAD11 HGNC NCBI

Linked Data

dbSNP Id: rs199973254
ExAC: 3:132407935 G / A
gnomAD v2: 3-132407935-G-A
gnomAD v3: 3-132689091-G-A
gnomAD v4: 3-132689091-G-A
COSMIC: COSM3587604
MyVariant Identifiers: chr3:g.132407935G>A (hg19) chr3:g.132689091G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.132689091G>A , CM000665.2:g.132689091G>A GRCh38
NC_000003.11:g.132407935G>A , CM000665.1:g.132407935G>A GRCh37
NC_000003.10:g.133890625G>A NCBI36
NG_008130.1:g.38342C>T
NG_008130.2:g.38342C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000684294.1:c.*774C>T (NPHP3) ENSP00000508078.1:n.*774C>T
ENST00000337331.10:c.2866C>T (NPHP3) MANE Select ENSP00000338766.5:p.Leu956=
ENST00000337331.9:c.2866C>T (NPHP3) ENSP00000338766.5:p.Leu956=
ENST00000465756.5:c.*774C>T (NPHP3) ENSP00000419907.1:n.*774C>T
ENST00000471702.2:c.*857C>T (NPHP3-ACAD11) ENSP00000419763.1:n.*857C>T
ENST00000474871.5:n.600C>T (NPHP3)
ENST00000490993.5:n.3591C>T (NPHP3)
NM_153240.4:c.2866C>T (NPHP3) NP_694972.3:p.Leu956=
NR_037804.1:n.2872C>T (NPHP3-ACAD11)
NM_153240.5:c.2866C>T (NPHP3) MANE Select NP_694972.3:p.Leu956=
Search 100 bp 5'
Search 100 bp 3'