Canonical Allele Identifier: CA338049241

Gene: NPHP4

Linked Data

• MyVariant Identifiers: chr1:g.5924076C>G (hg19) ; chr1:g.5864016C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5864016C>G , CM000663.2:g.5864016C>G	GRCh38
NC_000001.10:g.5924076C>G , CM000663.1:g.5924076C>G	GRCh37
NC_000001.9:g.5846663C>G	NCBI36
NG_011724.2:g.133456G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4014G>C MANE Select	ENSP00000367398.4:p.Leu1338Phe
ENST00000378156.8:c.4014G>C	ENSP00000367398.4:p.Leu1338Phe
ENST00000378161.5:n.3165G>C
ENST00000378169.7:c.*2915G>C	ENSP00000367411.3:n.*2915G>C
ENST00000460696.1:n.2762G>C
ENST00000478423.6:n.3746G>C
ENST00000489180.6:c.*1825G>C	ENSP00000423747.1:n.*1825G>C
NM_001291593.1:c.2475G>C	NP_001278522.1:p.Leu825Phe
NM_001291594.1:c.2478G>C	NP_001278523.1:p.Leu826Phe
NM_015102.4:c.4014G>C	NP_055917.1:p.Leu1338Phe
NR_111987.1:n.4829G>C
XM_006710563.2:c.4014G>C	XP_006710626.1:p.Leu1338Phe
XM_006710565.2:c.4014G>C	XP_006710628.1:p.Leu1338Phe
XM_011541213.1:c.4011G>C	XP_011539515.1:p.Leu1337Phe
XM_011541214.1:c.3972G>C	XP_011539516.1:p.Leu1324Phe
XM_011541215.1:c.3903G>C	XP_011539517.1:p.Leu1301Phe
XM_011541216.1:c.4014G>C	XP_011539518.1:p.Leu1338Phe
XM_011541217.1:c.4014G>C	XP_011539519.1:p.Leu1338Phe
XM_011541218.1:c.4014G>C	XP_011539520.1:p.Leu1338Phe
XM_011541219.1:c.3960G>C	XP_011539521.1:p.Leu1320Phe
XM_006710563.3:c.4014G>C	XP_006710626.1:p.Leu1338Phe
XM_011541216.2:c.4014G>C	XP_011539518.1:p.Leu1338Phe
XM_011541217.2:c.4014G>C	XP_011539519.1:p.Leu1338Phe
XM_011541218.2:c.4014G>C	XP_011539520.1:p.Leu1338Phe
XM_017000996.1:c.3969G>C	XP_016856485.1:p.Leu1323Phe
XM_017000997.1:c.4014G>C	XP_016856486.1:p.Leu1338Phe
XM_017000999.1:c.3486G>C	XP_016856488.1:p.Leu1162Phe
XM_017001000.2:c.3486G>C	XP_016856489.1:p.Leu1162Phe
XM_017001001.1:c.3216G>C	XP_016856490.1:p.Leu1072Phe
XM_017001003.1:c.2475G>C	XP_016856492.1:p.Leu825Phe
XR_001737114.1:n.3880G>C
XR_001737115.1:n.3865G>C
NM_015102.5:c.4014G>C MANE Select	NP_055917.1:p.Leu1338Phe
NM_001291593.2:c.2475G>C	NP_001278522.1:p.Leu825Phe
NM_001291594.2:c.2478G>C	NP_001278523.1:p.Leu826Phe
NR_111987.2:n.4781G>C