Canonical Allele Identifier: CA1827225

Gene: NPHP1

Linked Data

• ClinVar Variation Id: 498608
• ClinVar RCV Id: RCV000592386 ; RCV001134447 ; RCV001134448 ; RCV001134446 ; RCV003748247
• dbSNP Id: rs201478764
• ExAC: 2:110920717 A / G
• gnomAD v2: 2-110920717-A-G
• gnomAD v3: 2-110163140-A-G
• gnomAD v4: 2-110163140-A-G
• MyVariant Identifiers: chr2:g.110920717A>G (hg19) ; chr2:g.110163140A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.110163140A>G , CM000664.2:g.110163140A>G	GRCh38
NC_000002.11:g.110920717A>G , CM000664.1:g.110920717A>G	GRCh37
NC_000002.10:g.110278006A>G	NCBI36
NG_008287.1:g.46923T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445609.7:c.772-5T>C MANE Select	ENSP00000389879.3:n.772-5T>C
ENST00000674677.1:c.703-5T>C	ENSP00000502265.1:n.703-5T>C
ENST00000675067.1:c.-35T>C	ENSP00000502817.1:n.-35T>C
ENST00000675356.1:n.1263-8T>C
ENST00000675752.1:n.2352T>C
ENST00000676028.1:c.771+1548T>C	ENSP00000502639.1:n.771+1548T>C
ENST00000676053.1:c.586-8T>C	ENSP00000502475.1:n.586-8T>C
ENST00000676091.1:c.150+1548T>C	ENSP00000502528.1:n.150+1548T>C
ENST00000676165.1:n.2358T>C
ENST00000676258.1:n.1863-5T>C
ENST00000316534.8:c.940-5T>C	ENSP00000313169.4:n.940-5T>C
ENST00000355301.8:c.586-8T>C	ENSP00000347452.4:n.586-8T>C
ENST00000393272.7:c.940-8T>C	ENSP00000376953.3:n.940-8T>C
ENST00000417665.5:c.772-8T>C	ENSP00000402176.1:n.772-8T>C
ENST00000445609.6:c.772-5T>C	ENSP00000389879.2:n.772-5T>C
ENST00000461707.5:n.2352T>C
ENST00000496524.5:n.2368T>C
NM_000272.3:c.940-5T>C	NP_000263.2:n.940-5T>C
NM_001128178.1:c.772-5T>C	NP_001121650.1:n.772-5T>C
NM_001128179.1:c.586-8T>C	NP_001121651.1:n.586-8T>C
NM_207181.2:c.940-8T>C	NP_997064.2:n.940-8T>C
XM_005263675.1:c.940-8T>C	XP_005263732.1:n.940-8T>C
XM_005263676.1:c.772-5T>C	XP_005263733.1:n.772-5T>C
XM_005263677.1:c.772-8T>C	XP_005263734.1:n.772-8T>C
XM_005263678.2:c.940-5T>C	XP_005263735.1:n.940-5T>C
XM_005263679.1:c.772-8T>C	XP_005263736.1:n.772-8T>C
XM_006712551.1:c.940-5T>C	XP_006712614.1:n.940-5T>C
XM_006712552.2:c.940-5T>C	XP_006712615.1:n.940-5T>C
XM_011511244.1:c.940-5T>C	XP_011509546.1:n.940-5T>C
XM_017004218.1:c.772-5T>C	XP_016859707.1:n.772-5T>C
NM_000272.4:c.940-5T>C	NP_000263.2:n.940-5T>C
NM_001128178.3:c.772-5T>C MANE Select	NP_001121650.1:n.772-5T>C
NM_001128179.2:c.586-8T>C	NP_001121651.1:n.586-8T>C
NM_001374256.1:c.772-8T>C	NP_001361185.1:n.772-8T>C
NM_001374257.1:c.772-5T>C	NP_001361186.1:n.772-5T>C
NM_207181.3:c.940-8T>C	NP_997064.2:n.940-8T>C
NM_000272.5:c.940-5T>C	NP_000263.2:n.940-5T>C
NM_001128179.3:c.586-8T>C	NP_001121651.1:n.586-8T>C
NM_207181.4:c.940-8T>C	NP_997064.2:n.940-8T>C