Canonical Allele Identifier: CA553367

Gene: NPHP4

Linked Data

• dbSNP Id: rs747071185
• ExAC: 1:5924023 T / C
• gnomAD v2: 1-5924023-T-C
• gnomAD v3: 1-5863963-T-C
• gnomAD v4: 1-5863963-T-C
• MyVariant Identifiers: chr1:g.5924023T>C (hg19) ; chr1:g.5863963T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863963T>C , CM000663.2:g.5863963T>C	GRCh38
NC_000001.10:g.5924023T>C , CM000663.1:g.5924023T>C	GRCh37
NC_000001.9:g.5846610T>C	NCBI36
NG_011724.2:g.133509A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4067A>G MANE Select	ENSP00000367398.4:p.Tyr1356Cys
ENST00000378156.8:c.4067A>G	ENSP00000367398.4:p.Tyr1356Cys
ENST00000378161.5:n.3218A>G
ENST00000378169.7:c.*2968A>G	ENSP00000367411.3:n.*2968A>G
ENST00000460696.1:n.2815A>G
ENST00000478423.6:n.3799A>G
ENST00000489180.6:c.*1878A>G	ENSP00000423747.1:n.*1878A>G
NM_001291593.1:c.2528A>G	NP_001278522.1:p.Tyr843Cys
NM_001291594.1:c.2531A>G	NP_001278523.1:p.Tyr844Cys
NM_015102.4:c.4067A>G	NP_055917.1:p.Tyr1356Cys
NR_111987.1:n.4882A>G
XM_006710563.2:c.4067A>G	XP_006710626.1:p.Tyr1356Cys
XM_006710565.2:c.4067A>G	XP_006710628.1:p.Tyr1356Cys
XM_011541213.1:c.4064A>G	XP_011539515.1:p.Tyr1355Cys
XM_011541214.1:c.4025A>G	XP_011539516.1:p.Tyr1342Cys
XM_011541215.1:c.3956A>G	XP_011539517.1:p.Tyr1319Cys
XM_011541216.1:c.4067A>G	XP_011539518.1:p.Tyr1356Cys
XM_011541217.1:c.4067A>G	XP_011539519.1:p.Tyr1356Cys
XM_011541218.1:c.4067A>G	XP_011539520.1:p.Tyr1356Cys
XM_011541219.1:c.4013A>G	XP_011539521.1:p.Tyr1338Cys
XM_006710563.3:c.4067A>G	XP_006710626.1:p.Tyr1356Cys
XM_011541216.2:c.4067A>G	XP_011539518.1:p.Tyr1356Cys
XM_011541217.2:c.4067A>G	XP_011539519.1:p.Tyr1356Cys
XM_011541218.2:c.4067A>G	XP_011539520.1:p.Tyr1356Cys
XM_017000996.1:c.4022A>G	XP_016856485.1:p.Tyr1341Cys
XM_017000997.1:c.4067A>G	XP_016856486.1:p.Tyr1356Cys
XM_017000999.1:c.3539A>G	XP_016856488.1:p.Tyr1180Cys
XM_017001000.2:c.3539A>G	XP_016856489.1:p.Tyr1180Cys
XM_017001001.1:c.3269A>G	XP_016856490.1:p.Tyr1090Cys
XM_017001003.1:c.2528A>G	XP_016856492.1:p.Tyr843Cys
XR_001737114.1:n.3933A>G
XR_001737115.1:n.3918A>G
NM_015102.5:c.4067A>G MANE Select	NP_055917.1:p.Tyr1356Cys
NM_001291593.2:c.2528A>G	NP_001278522.1:p.Tyr843Cys
NM_001291594.2:c.2531A>G	NP_001278523.1:p.Tyr844Cys
NR_111987.2:n.4834A>G