Canonical Allele Identifier: CA338049252

Gene: NPHP4

Linked Data

• dbSNP Id: rs1640917710
• MyVariant Identifiers: chr1:g.5924079C>T (hg19) ; chr1:g.5864019C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864019C>T , CM000663.2:g.5864019C>T	GRCh38
NC_000001.10:g.5924079C>T , CM000663.1:g.5924079C>T	GRCh37
NC_000001.9:g.5846666C>T	NCBI36
NG_011724.2:g.133453G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4011G>A MANE Select	ENSP00000367398.4:p.Met1337Ile
ENST00000378156.8:c.4011G>A	ENSP00000367398.4:p.Met1337Ile
ENST00000378161.5:n.3162G>A
ENST00000378169.7:c.*2912G>A	ENSP00000367411.3:n.*2912G>A
ENST00000460696.1:n.2759G>A
ENST00000478423.6:n.3743G>A
ENST00000489180.6:c.*1822G>A	ENSP00000423747.1:n.*1822G>A
NM_001291593.1:c.2472G>A	NP_001278522.1:p.Met824Ile
NM_001291594.1:c.2475G>A	NP_001278523.1:p.Met825Ile
NM_015102.4:c.4011G>A	NP_055917.1:p.Met1337Ile
NR_111987.1:n.4826G>A
XM_006710563.2:c.4011G>A	XP_006710626.1:p.Met1337Ile
XM_006710565.2:c.4011G>A	XP_006710628.1:p.Met1337Ile
XM_011541213.1:c.4008G>A	XP_011539515.1:p.Met1336Ile
XM_011541214.1:c.3969G>A	XP_011539516.1:p.Met1323Ile
XM_011541215.1:c.3900G>A	XP_011539517.1:p.Met1300Ile
XM_011541216.1:c.4011G>A	XP_011539518.1:p.Met1337Ile
XM_011541217.1:c.4011G>A	XP_011539519.1:p.Met1337Ile
XM_011541218.1:c.4011G>A	XP_011539520.1:p.Met1337Ile
XM_011541219.1:c.3957G>A	XP_011539521.1:p.Met1319Ile
XM_006710563.3:c.4011G>A	XP_006710626.1:p.Met1337Ile
XM_011541216.2:c.4011G>A	XP_011539518.1:p.Met1337Ile
XM_011541217.2:c.4011G>A	XP_011539519.1:p.Met1337Ile
XM_011541218.2:c.4011G>A	XP_011539520.1:p.Met1337Ile
XM_017000996.1:c.3966G>A	XP_016856485.1:p.Met1322Ile
XM_017000997.1:c.4011G>A	XP_016856486.1:p.Met1337Ile
XM_017000999.1:c.3483G>A	XP_016856488.1:p.Met1161Ile
XM_017001000.2:c.3483G>A	XP_016856489.1:p.Met1161Ile
XM_017001001.1:c.3213G>A	XP_016856490.1:p.Met1071Ile
XM_017001003.1:c.2472G>A	XP_016856492.1:p.Met824Ile
XR_001737114.1:n.3877G>A
XR_001737115.1:n.3862G>A
NM_015102.5:c.4011G>A MANE Select	NP_055917.1:p.Met1337Ile
NM_001291593.2:c.2472G>A	NP_001278522.1:p.Met824Ile
NM_001291594.2:c.2475G>A	NP_001278523.1:p.Met825Ile
NR_111987.2:n.4778G>A