Canonical Allele Identifier: CA17124374

Gene: NPHP4

Linked Data

• dbSNP Id: rs1038920209
• gnomAD v4: 1-5863142-A-G
• MyVariant Identifiers: chr1:g.5923202A>G (hg19) ; chr1:g.5863142A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863142A>G , CM000663.2:g.5863142A>G	GRCh38
NC_000001.10:g.5923202A>G , CM000663.1:g.5923202A>G	GRCh37
NC_000001.9:g.5845789A>G	NCBI36
NG_011724.2:g.134330T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378156.9:c.*123T>C MANE Select	ENSP00000367398.4:n.*123T>C
ENST00000378156.8:c.*123T>C	ENSP00000367398.4:n.*123T>C
ENST00000378161.5:n.4039T>C
ENST00000460696.1:n.3636T>C
ENST00000478423.6:n.4136T>C
ENST00000489180.6:c.*2215T>C	ENSP00000423747.1:n.*2215T>C
NM_001291593.1:c.*123T>C	NP_001278522.1:n.*123T>C
NM_001291594.1:c.*123T>C	NP_001278523.1:n.*123T>C
NM_015102.4:c.*123T>C	NP_055917.1:n.*123T>C
NR_111987.1:n.5219T>C
XM_006710563.2:c.*123T>C	XP_006710626.1:n.*123T>C
XM_006710565.2:c.*123T>C	XP_006710628.1:n.*123T>C
XM_011541213.1:c.*123T>C	XP_011539515.1:n.*123T>C
XM_011541214.1:c.*123T>C	XP_011539516.1:n.*123T>C
XM_011541215.1:c.*123T>C	XP_011539517.1:n.*123T>C
XM_011541216.1:c.*123T>C	XP_011539518.1:n.*123T>C
XM_011541217.1:c.*123T>C	XP_011539519.1:n.*123T>C
XM_011541218.1:c.*123T>C	XP_011539520.1:n.*123T>C
XM_011541219.1:c.*123T>C	XP_011539521.1:n.*123T>C
XM_006710563.3:c.*123T>C	XP_006710626.1:n.*123T>C
XM_011541216.2:c.*123T>C	XP_011539518.1:n.*123T>C
XM_011541217.2:c.*123T>C	XP_011539519.1:n.*123T>C
XM_011541218.2:c.*123T>C	XP_011539520.1:n.*123T>C
XM_017000996.1:c.*123T>C	XP_016856485.1:n.*123T>C
XM_017000997.1:c.*123T>C	XP_016856486.1:n.*123T>C
XM_017000999.1:c.*123T>C	XP_016856488.1:n.*123T>C
XM_017001000.2:c.*123T>C	XP_016856489.1:n.*123T>C
XM_017001001.1:c.*123T>C	XP_016856490.1:n.*123T>C
XM_017001003.1:c.*123T>C	XP_016856492.1:n.*123T>C
XR_001737114.1:n.4270T>C
XR_001737115.1:n.4255T>C
NM_015102.5:c.*123T>C MANE Select	NP_055917.1:n.*123T>C
NM_001291593.2:c.*123T>C	NP_001278522.1:n.*123T>C
NM_001291594.2:c.*123T>C	NP_001278523.1:n.*123T>C
NR_111987.2:n.5171T>C