Canonical Allele Identifier: CA270792
Gene: NPHP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 156395
dbSNP Id: rs200118387

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.110165163dup , CM000664.2:g.110165163dup GRCh38
NC_000002.11:g.110922740dup , CM000664.1:g.110922740dup GRCh37
NC_000002.10:g.110280029dup NCBI36
NG_008287.1:g.44905dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000445609.7:c.625-3dup MANE Select ENSP00000389879.3:n.625-3dup
ENST00000674677.1:c.556-3dup ENSP00000502265.1:n.556-3dup
ENST00000675067.1:c.-1729-3dup ENSP00000502817.1:n.-1729-3dup
ENST00000675356.1:n.664-3dup
ENST00000675752.1:n.658-3dup
ENST00000676028.1:c.625-3dup ENSP00000502639.1:n.625-3dup
ENST00000676053.1:c.439-3dup ENSP00000502475.1:n.439-3dup
ENST00000676091.1:c.4-3dup ENSP00000502528.1:n.4-3dup
ENST00000676165.1:n.664-3dup
ENST00000676258.1:n.1716-3dup
ENST00000316534.8:c.625-3dup ENSP00000313169.4:n.625-3dup
ENST00000355301.8:c.439-3dup ENSP00000347452.4:n.439-3dup
ENST00000393272.7:c.625-3dup ENSP00000376953.3:n.625-3dup
ENST00000417665.5:c.625-3dup ENSP00000402176.1:n.625-3dup
ENST00000445609.6:c.625-3dup ENSP00000389879.2:n.625-3dup
ENST00000461707.5:n.658-3dup
ENST00000496524.5:n.674-3dup
NM_000272.3:c.625-3dup NP_000263.2:n.625-3dup
NM_001128178.1:c.625-3dup NP_001121650.1:n.625-3dup
NM_001128179.1:c.439-3dup NP_001121651.1:n.439-3dup
NM_207181.2:c.625-3dup NP_997064.2:n.625-3dup
XM_005263675.1:c.625-3dup XP_005263732.1:n.625-3dup
XM_005263676.1:c.625-3dup XP_005263733.1:n.625-3dup
XM_005263677.1:c.625-3dup XP_005263734.1:n.625-3dup
XM_005263678.2:c.625-3dup XP_005263735.1:n.625-3dup
XM_005263679.1:c.625-3dup XP_005263736.1:n.625-3dup
XM_006712551.1:c.625-3dup XP_006712614.1:n.625-3dup
XM_006712552.2:c.625-3dup XP_006712615.1:n.625-3dup
XM_011511244.1:c.625-3dup XP_011509546.1:n.625-3dup
XM_017004218.1:c.625-3dup XP_016859707.1:n.625-3dup
NM_000272.4:c.625-3dup NP_000263.2:n.625-3dup
NM_001128178.3:c.625-3dup MANE Select NP_001121650.1:n.625-3dup
NM_001128179.2:c.439-3dup NP_001121651.1:n.439-3dup
NM_001374256.1:c.625-3dup NP_001361185.1:n.625-3dup
NM_001374257.1:c.625-3dup NP_001361186.1:n.625-3dup
NM_207181.3:c.625-3dup NP_997064.2:n.625-3dup
NM_000272.5:c.625-3dup NP_000263.2:n.625-3dup
NM_001128179.3:c.439-3dup NP_001121651.1:n.439-3dup
NM_207181.4:c.625-3dup NP_997064.2:n.625-3dup