Canonical Allele Identifier: CA338048773

Gene: NPHP4

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4133C>A MANE Select	ENSP00000367398.4:p.Ser1378Tyr
ENST00000378156.8:c.4133C>A	ENSP00000367398.4:p.Ser1378Tyr
ENST00000378161.5:n.3284C>A
ENST00000378169.7:c.*3034C>A	ENSP00000367411.3:n.*3034C>A
ENST00000460696.1:n.2881C>A
ENST00000478423.6:n.3865C>A
ENST00000489180.6:c.*1944C>A	ENSP00000423747.1:n.*1944C>A
NM_001291593.1:c.2594C>A	NP_001278522.1:p.Ser865Tyr
NM_001291594.1:c.2597C>A	NP_001278523.1:p.Ser866Tyr
NM_015102.4:c.4133C>A	NP_055917.1:p.Ser1378Tyr
NR_111987.1:n.4948C>A
XM_006710563.2:c.4133C>A	XP_006710626.1:p.Ser1378Tyr
XM_006710565.2:c.4133C>A	XP_006710628.1:p.Ser1378Tyr
XM_011541213.1:c.4130C>A	XP_011539515.1:p.Ser1377Tyr
XM_011541214.1:c.4091C>A	XP_011539516.1:p.Ser1364Tyr
XM_011541215.1:c.4022C>A	XP_011539517.1:p.Ser1341Tyr
XM_011541216.1:c.4133C>A	XP_011539518.1:p.Ser1378Tyr
XM_011541217.1:c.4133C>A	XP_011539519.1:p.Ser1378Tyr
XM_011541218.1:c.4133C>A	XP_011539520.1:p.Ser1378Tyr
XM_011541219.1:c.4079C>A	XP_011539521.1:p.Ser1360Tyr
XM_006710563.3:c.4133C>A	XP_006710626.1:p.Ser1378Tyr
XM_011541216.2:c.4133C>A	XP_011539518.1:p.Ser1378Tyr
XM_011541217.2:c.4133C>A	XP_011539519.1:p.Ser1378Tyr
XM_011541218.2:c.4133C>A	XP_011539520.1:p.Ser1378Tyr
XM_017000996.1:c.4088C>A	XP_016856485.1:p.Ser1363Tyr
XM_017000997.1:c.4133C>A	XP_016856486.1:p.Ser1378Tyr
XM_017000999.1:c.3605C>A	XP_016856488.1:p.Ser1202Tyr
XM_017001000.2:c.3605C>A	XP_016856489.1:p.Ser1202Tyr
XM_017001001.1:c.3335C>A	XP_016856490.1:p.Ser1112Tyr
XM_017001003.1:c.2594C>A	XP_016856492.1:p.Ser865Tyr
XR_001737114.1:n.3999C>A
XR_001737115.1:n.3984C>A
NM_015102.5:c.4133C>A MANE Select	NP_055917.1:p.Ser1378Tyr
NM_001291593.2:c.2594C>A	NP_001278522.1:p.Ser865Tyr
NM_001291594.2:c.2597C>A	NP_001278523.1:p.Ser866Tyr
NR_111987.2:n.4900C>A