Canonical Allele Identifier: CA415787029
Gene: NPHP4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.5924049G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.5863989G>A , CM000663.2:g.5863989G>A GRCh38
NC_000001.10:g.5924049G>A , CM000663.1:g.5924049G>A GRCh37
NC_000001.9:g.5846636G>A NCBI36
NG_011724.2:g.133483C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378156.9:c.4041C>T MANE Select ENSP00000367398.4:p.Asn1347=
ENST00000378156.8:c.4041C>T ENSP00000367398.4:p.Asn1347=
ENST00000378161.5:n.3192C>T
ENST00000378169.7:c.*2942C>T ENSP00000367411.3:n.*2942C>T
ENST00000460696.1:n.2789C>T
ENST00000478423.6:n.3773C>T
ENST00000489180.6:c.*1852C>T ENSP00000423747.1:n.*1852C>T
NM_001291593.1:c.2502C>T NP_001278522.1:p.Asn834=
NM_001291594.1:c.2505C>T NP_001278523.1:p.Asn835=
NM_015102.4:c.4041C>T NP_055917.1:p.Asn1347=
NR_111987.1:n.4856C>T
XM_006710563.2:c.4041C>T XP_006710626.1:p.Asn1347=
XM_006710565.2:c.4041C>T XP_006710628.1:p.Asn1347=
XM_011541213.1:c.4038C>T XP_011539515.1:p.Asn1346=
XM_011541214.1:c.3999C>T XP_011539516.1:p.Asn1333=
XM_011541215.1:c.3930C>T XP_011539517.1:p.Asn1310=
XM_011541216.1:c.4041C>T XP_011539518.1:p.Asn1347=
XM_011541217.1:c.4041C>T XP_011539519.1:p.Asn1347=
XM_011541218.1:c.4041C>T XP_011539520.1:p.Asn1347=
XM_011541219.1:c.3987C>T XP_011539521.1:p.Asn1329=
XM_006710563.3:c.4041C>T XP_006710626.1:p.Asn1347=
XM_011541216.2:c.4041C>T XP_011539518.1:p.Asn1347=
XM_011541217.2:c.4041C>T XP_011539519.1:p.Asn1347=
XM_011541218.2:c.4041C>T XP_011539520.1:p.Asn1347=
XM_017000996.1:c.3996C>T XP_016856485.1:p.Asn1332=
XM_017000997.1:c.4041C>T XP_016856486.1:p.Asn1347=
XM_017000999.1:c.3513C>T XP_016856488.1:p.Asn1171=
XM_017001000.2:c.3513C>T XP_016856489.1:p.Asn1171=
XM_017001001.1:c.3243C>T XP_016856490.1:p.Asn1081=
XM_017001003.1:c.2502C>T XP_016856492.1:p.Asn834=
XR_001737114.1:n.3907C>T
XR_001737115.1:n.3892C>T
NM_015102.5:c.4041C>T MANE Select NP_055917.1:p.Asn1347=
NM_001291593.2:c.2502C>T NP_001278522.1:p.Asn834=
NM_001291594.2:c.2505C>T NP_001278523.1:p.Asn835=
NR_111987.2:n.4808C>T