Canonical Allele Identifier: CA2660636373

Gene: NPHP1

Linked Data

• gnomAD v4: 2-110162986-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.110162986A>G , CM000664.2:g.110162986A>G	GRCh38
NC_000002.11:g.110920563A>G , CM000664.1:g.110920563A>G	GRCh37
NC_000002.10:g.110277852A>G	NCBI36
NG_008287.1:g.47077T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000445609.7:c.859+62T>C MANE Select	ENSP00000389879.3:n.859+62T>C
ENST00000674677.1:c.790+62T>C	ENSP00000502265.1:n.790+62T>C
ENST00000675067.1:c.58+62T>C	ENSP00000502817.1:n.58+62T>C
ENST00000675356.1:n.1347+62T>C
ENST00000675752.1:n.2444+62T>C
ENST00000676028.1:c.771+1702T>C	ENSP00000502639.1:n.771+1702T>C
ENST00000676053.1:c.670+62T>C	ENSP00000502475.1:n.670+62T>C
ENST00000676091.1:c.150+1702T>C	ENSP00000502528.1:n.150+1702T>C
ENST00000676165.1:n.2450+62T>C
ENST00000676258.1:n.1950+62T>C
ENST00000316534.8:c.1027+62T>C	ENSP00000313169.4:n.1027+62T>C
ENST00000355301.8:c.670+62T>C	ENSP00000347452.4:n.670+62T>C
ENST00000393272.7:c.1024+62T>C	ENSP00000376953.3:n.1024+62T>C
ENST00000417665.5:c.856+62T>C	ENSP00000402176.1:n.856+62T>C
ENST00000445609.6:c.859+62T>C	ENSP00000389879.2:n.859+62T>C
ENST00000461707.5:n.2444+62T>C
ENST00000496524.5:n.2460+62T>C
NM_000272.3:c.1027+62T>C	NP_000263.2:n.1027+62T>C
NM_001128178.1:c.859+62T>C	NP_001121650.1:n.859+62T>C
NM_001128179.1:c.670+62T>C	NP_001121651.1:n.670+62T>C
NM_207181.2:c.1024+62T>C	NP_997064.2:n.1024+62T>C
XM_005263675.1:c.1024+62T>C	XP_005263732.1:n.1024+62T>C
XM_005263676.1:c.859+62T>C	XP_005263733.1:n.859+62T>C
XM_005263677.1:c.856+62T>C	XP_005263734.1:n.856+62T>C
XM_005263678.2:c.1027+62T>C	XP_005263735.1:n.1027+62T>C
XM_005263679.1:c.856+62T>C	XP_005263736.1:n.856+62T>C
XM_006712551.1:c.1027+62T>C	XP_006712614.1:n.1027+62T>C
XM_006712552.2:c.1027+62T>C	XP_006712615.1:n.1027+62T>C
XM_011511244.1:c.1027+62T>C	XP_011509546.1:n.1027+62T>C
XM_017004218.1:c.859+62T>C	XP_016859707.1:n.859+62T>C
NM_000272.4:c.1027+62T>C	NP_000263.2:n.1027+62T>C
NM_001128178.3:c.859+62T>C MANE Select	NP_001121650.1:n.859+62T>C
NM_001128179.2:c.670+62T>C	NP_001121651.1:n.670+62T>C
NM_001374256.1:c.856+62T>C	NP_001361185.1:n.856+62T>C
NM_001374257.1:c.859+62T>C	NP_001361186.1:n.859+62T>C
NM_207181.3:c.1024+62T>C	NP_997064.2:n.1024+62T>C
NM_000272.5:c.1027+62T>C	NP_000263.2:n.1027+62T>C
NM_001128179.3:c.670+62T>C	NP_001121651.1:n.670+62T>C
NM_207181.4:c.1024+62T>C	NP_997064.2:n.1024+62T>C