Canonical Allele Identifier: CA338047747

Gene: NPHP4

Linked Data

• gnomAD v4: 1-5863369-A-G
• MyVariant Identifiers: chr1:g.5923429A>G (hg19) ; chr1:g.5863369A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863369A>G , CM000663.2:g.5863369A>G	GRCh38
NC_000001.10:g.5923429A>G , CM000663.1:g.5923429A>G	GRCh37
NC_000001.9:g.5846016A>G	NCBI36
NG_011724.2:g.134103T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4177T>C MANE Select	ENSP00000367398.4:p.Phe1393Leu
ENST00000378156.8:c.4177T>C	ENSP00000367398.4:p.Phe1393Leu
ENST00000378161.5:n.3812T>C
ENST00000378169.7:c.*3078T>C	ENSP00000367411.3:n.*3078T>C
ENST00000460696.1:n.3409T>C
ENST00000478423.6:n.3909T>C
ENST00000489180.6:c.*1988T>C	ENSP00000423747.1:n.*1988T>C
NM_001291593.1:c.2638T>C	NP_001278522.1:p.Phe880Leu
NM_001291594.1:c.2641T>C	NP_001278523.1:p.Phe881Leu
NM_015102.4:c.4177T>C	NP_055917.1:p.Phe1393Leu
NR_111987.1:n.4992T>C
XM_006710563.2:c.4177T>C	XP_006710626.1:p.Phe1393Leu
XM_006710565.2:c.4177T>C	XP_006710628.1:p.Phe1393Leu
XM_011541213.1:c.4174T>C	XP_011539515.1:p.Phe1392Leu
XM_011541214.1:c.4135T>C	XP_011539516.1:p.Phe1379Leu
XM_011541215.1:c.4066T>C	XP_011539517.1:p.Phe1356Leu
XM_011541216.1:c.4177T>C	XP_011539518.1:p.Phe1393Leu
XM_011541217.1:c.4177T>C	XP_011539519.1:p.Phe1393Leu
XM_011541218.1:c.4177T>C	XP_011539520.1:p.Phe1393Leu
XM_011541219.1:c.4123T>C	XP_011539521.1:p.Phe1375Leu
XM_006710563.3:c.4177T>C	XP_006710626.1:p.Phe1393Leu
XM_011541216.2:c.4177T>C	XP_011539518.1:p.Phe1393Leu
XM_011541217.2:c.4177T>C	XP_011539519.1:p.Phe1393Leu
XM_011541218.2:c.4177T>C	XP_011539520.1:p.Phe1393Leu
XM_017000996.1:c.4132T>C	XP_016856485.1:p.Phe1378Leu
XM_017000997.1:c.4177T>C	XP_016856486.1:p.Phe1393Leu
XM_017000999.1:c.3649T>C	XP_016856488.1:p.Phe1217Leu
XM_017001000.2:c.3649T>C	XP_016856489.1:p.Phe1217Leu
XM_017001001.1:c.3379T>C	XP_016856490.1:p.Phe1127Leu
XM_017001003.1:c.2638T>C	XP_016856492.1:p.Phe880Leu
XR_001737114.1:n.4043T>C
XR_001737115.1:n.4028T>C
NM_015102.5:c.4177T>C MANE Select	NP_055917.1:p.Phe1393Leu
NM_001291593.2:c.2638T>C	NP_001278522.1:p.Phe880Leu
NM_001291594.2:c.2641T>C	NP_001278523.1:p.Phe881Leu
NR_111987.2:n.4944T>C