Canonical Allele Identifier: CA1826995

Gene: NPHP1

Linked Data

• ClinVar Variation Id: 385557
• ClinVar RCV Id: RCV000436525 ; RCV002059561 ; RCV002502548 ; RCV004539850
• dbSNP Id: rs146220435
• ExAC: 2:110901124 T / C
• gnomAD v2: 2-110901124-T-C
• gnomAD v3: 2-110143547-T-C
• gnomAD v4: 2-110143547-T-C
• MyVariant Identifiers: chr2:g.110901124T>C (hg19) ; chr2:g.110143547T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.110143547T>C , CM000664.2:g.110143547T>C	GRCh38
NC_000002.11:g.110901124T>C , CM000664.1:g.110901124T>C	GRCh37
NC_000002.10:g.110258413T>C	NCBI36
NG_008287.1:g.66516A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000445609.7:c.1524A>G MANE Select	ENSP00000389879.3:p.Val508=
ENST00000674677.1:c.1569A>G	ENSP00000502265.1:p.Val523=
ENST00000675067.1:c.723A>G	ENSP00000502817.1:p.Val241=
ENST00000675356.1:n.2202A>G
ENST00000675632.1:n.2928A>G
ENST00000675752.1:n.3227A>G
ENST00000676028.1:c.1341A>G	ENSP00000502639.1:p.Val447=
ENST00000676053.1:c.1335A>G	ENSP00000502475.1:p.Val445=
ENST00000676091.1:c.720A>G	ENSP00000502528.1:p.Val240=
ENST00000676165.1:n.3187A>G
ENST00000676258.1:n.2615A>G
ENST00000316534.8:c.1692A>G	ENSP00000313169.4:p.Val564=
ENST00000355301.8:c.1335A>G	ENSP00000347452.4:p.Val445=
ENST00000393272.7:c.1689A>G	ENSP00000376953.3:p.Val563=
ENST00000417665.5:c.1521A>G	ENSP00000402176.1:p.Val507=
ENST00000445609.6:c.1524A>G	ENSP00000389879.2:p.Val508=
ENST00000461707.5:n.3109A>G
ENST00000493051.1:n.151A>G
ENST00000496524.5:n.3976A>G
NM_000272.3:c.1692A>G	NP_000263.2:p.Val564=
NM_001128178.1:c.1524A>G	NP_001121650.1:p.Val508=
NM_001128179.1:c.1335A>G	NP_001121651.1:p.Val445=
NM_207181.2:c.1689A>G	NP_997064.2:p.Val563=
XM_005263675.1:c.1689A>G	XP_005263732.1:p.Val563=
XM_005263676.1:c.1524A>G	XP_005263733.1:p.Val508=
XM_005263677.1:c.1521A>G	XP_005263734.1:p.Val507=
XM_005263678.2:c.1692A>G	XP_005263735.1:p.Val564=
XM_005263679.1:c.1521A>G	XP_005263736.1:p.Val507=
XM_006712551.1:c.1692A>G	XP_006712614.1:p.Val564=
XM_011511244.1:c.1692A>G	XP_011509546.1:p.Val564=
XM_017004218.1:c.1524A>G	XP_016859707.1:p.Val508=
NM_000272.4:c.1692A>G	NP_000263.2:p.Val564=
NM_001128178.3:c.1524A>G MANE Select	NP_001121650.1:p.Val508=
NM_001128179.2:c.1335A>G	NP_001121651.1:p.Val445=
NM_001374256.1:c.1521A>G	NP_001361185.1:p.Val507=
NM_001374257.1:c.1524A>G	NP_001361186.1:p.Val508=
NM_207181.3:c.1689A>G	NP_997064.2:p.Val563=
NM_000272.5:c.1692A>G	NP_000263.2:p.Val564=
NM_001128179.3:c.1335A>G	NP_001121651.1:p.Val445=
NM_207181.4:c.1689A>G	NP_997064.2:p.Val563=