Canonical Allele Identifier: CA553491
Community Standard Title: NM_015102.5(NPHP4):c.3720C>T (p.Cys1240=)
Gene: NPHP4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5865198G>A , CM000663.2:g.5865198G>A GRCh38
NC_000001.10:g.5925258G>A , CM000663.1:g.5925258G>A GRCh37
NC_000001.9:g.5847845G>A NCBI36
NG_011724.2:g.132274C>T

Transcript Alleles

HGVS Amino-acid Change
NM_015102.5:c.3720C>T MANE Select NP_055917.1:p.Cys1240=
ENST00000378156.9:c.3720C>T MANE Select ENSP00000367398.4:p.Cys1240=
NM_001291593.1:c.2181C>T NP_001278522.1:p.Cys727=
NM_001291593.2:c.2181C>T NP_001278522.1:p.Cys727=
NM_001291594.1:c.2184C>T NP_001278523.1:p.Cys728=
NM_001291594.2:c.2184C>T NP_001278523.1:p.Cys728=
NM_015102.4:c.3720C>T NP_055917.1:p.Cys1240=
NR_111987.1:n.4535C>T
NR_111987.2:n.4487C>T
ENST00000378156.8:c.3720C>T ENSP00000367398.4:p.Cys1240=
ENST00000378161.5:n.1983C>T
ENST00000378169.7:c.*2621C>T ENSP00000367411.3:n.*2621C>T
ENST00000460696.1:n.1884C>T
ENST00000478423.6:n.3452C>T
ENST00000489180.6:c.*1531C>T ENSP00000423747.1:n.*1531C>T
XM_006710563.2:c.3720C>T XP_006710626.1:p.Cys1240=
XM_006710563.3:c.3720C>T XP_006710626.1:p.Cys1240=
XM_006710565.2:c.3720C>T XP_006710628.1:p.Cys1240=
XM_011541213.1:c.3717C>T XP_011539515.1:p.Cys1239=
XM_011541214.1:c.3678C>T XP_011539516.1:p.Cys1226=
XM_011541215.1:c.3609C>T XP_011539517.1:p.Cys1203=
XM_011541216.1:c.3720C>T XP_011539518.1:p.Cys1240=
XM_011541216.2:c.3720C>T XP_011539518.1:p.Cys1240=
XM_011541217.1:c.3720C>T XP_011539519.1:p.Cys1240=
XM_011541217.2:c.3720C>T XP_011539519.1:p.Cys1240=
XM_011541218.1:c.3720C>T XP_011539520.1:p.Cys1240=
XM_011541218.2:c.3720C>T XP_011539520.1:p.Cys1240=
XM_011541219.1:c.3666C>T XP_011539521.1:p.Cys1222=
XM_011541220.1:c.3645-681C>T XP_011539522.1:n.3645-681C>T
XM_017000996.1:c.3675C>T XP_016856485.1:p.Cys1225=
XM_017000997.1:c.3720C>T XP_016856486.1:p.Cys1240=
XM_017000998.1:c.3645-88C>T XP_016856487.1:n.3645-88C>T
XM_017000999.1:c.3192C>T XP_016856488.1:p.Cys1064=
XM_017001000.2:c.3192C>T XP_016856489.1:p.Cys1064=
XM_017001001.1:c.2922C>T XP_016856490.1:p.Cys974=
XM_017001003.1:c.2181C>T XP_016856492.1:p.Cys727=
XR_001737114.1:n.3683-681C>T
XR_001737115.1:n.3571C>T