Canonical Allele Identifier: CA338048770

Gene: NPHP4

Linked Data

• gnomAD v4: 1-5863897-G-A
• COSMIC: COSM5898732
• MyVariant Identifiers: chr1:g.5923957G>A (hg19) ; chr1:g.5863897G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863897G>A , CM000663.2:g.5863897G>A	GRCh38
NC_000001.10:g.5923957G>A , CM000663.1:g.5923957G>A	GRCh37
NC_000001.9:g.5846544G>A	NCBI36
NG_011724.2:g.133575C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4133C>T MANE Select	ENSP00000367398.4:p.Ser1378Phe
ENST00000378156.8:c.4133C>T	ENSP00000367398.4:p.Ser1378Phe
ENST00000378161.5:n.3284C>T
ENST00000378169.7:c.*3034C>T	ENSP00000367411.3:n.*3034C>T
ENST00000460696.1:n.2881C>T
ENST00000478423.6:n.3865C>T
ENST00000489180.6:c.*1944C>T	ENSP00000423747.1:n.*1944C>T
NM_001291593.1:c.2594C>T	NP_001278522.1:p.Ser865Phe
NM_001291594.1:c.2597C>T	NP_001278523.1:p.Ser866Phe
NM_015102.4:c.4133C>T	NP_055917.1:p.Ser1378Phe
NR_111987.1:n.4948C>T
XM_006710563.2:c.4133C>T	XP_006710626.1:p.Ser1378Phe
XM_006710565.2:c.4133C>T	XP_006710628.1:p.Ser1378Phe
XM_011541213.1:c.4130C>T	XP_011539515.1:p.Ser1377Phe
XM_011541214.1:c.4091C>T	XP_011539516.1:p.Ser1364Phe
XM_011541215.1:c.4022C>T	XP_011539517.1:p.Ser1341Phe
XM_011541216.1:c.4133C>T	XP_011539518.1:p.Ser1378Phe
XM_011541217.1:c.4133C>T	XP_011539519.1:p.Ser1378Phe
XM_011541218.1:c.4133C>T	XP_011539520.1:p.Ser1378Phe
XM_011541219.1:c.4079C>T	XP_011539521.1:p.Ser1360Phe
XM_006710563.3:c.4133C>T	XP_006710626.1:p.Ser1378Phe
XM_011541216.2:c.4133C>T	XP_011539518.1:p.Ser1378Phe
XM_011541217.2:c.4133C>T	XP_011539519.1:p.Ser1378Phe
XM_011541218.2:c.4133C>T	XP_011539520.1:p.Ser1378Phe
XM_017000996.1:c.4088C>T	XP_016856485.1:p.Ser1363Phe
XM_017000997.1:c.4133C>T	XP_016856486.1:p.Ser1378Phe
XM_017000999.1:c.3605C>T	XP_016856488.1:p.Ser1202Phe
XM_017001000.2:c.3605C>T	XP_016856489.1:p.Ser1202Phe
XM_017001001.1:c.3335C>T	XP_016856490.1:p.Ser1112Phe
XM_017001003.1:c.2594C>T	XP_016856492.1:p.Ser865Phe
XR_001737114.1:n.3999C>T
XR_001737115.1:n.3984C>T
NM_015102.5:c.4133C>T MANE Select	NP_055917.1:p.Ser1378Phe
NM_001291593.2:c.2594C>T	NP_001278522.1:p.Ser865Phe
NM_001291594.2:c.2597C>T	NP_001278523.1:p.Ser866Phe
NR_111987.2:n.4900C>T