Canonical Allele Identifier: CA10657788

Gene: NPHP4

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5986372C>G , CM000663.2:g.5986372C>G	GRCh38
NC_000001.10:g.6046432C>G , CM000663.1:g.6046432C>G	GRCh37
NC_000001.9:g.5969019C>G	NCBI36
NG_011724.2:g.11100G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015102.5:c.-38-45G>C MANE Select	NP_055917.1:n.-38-45G>C
ENST00000378156.9:c.-38-45G>C MANE Select	ENSP00000367398.4:n.-38-45G>C
NM_001291593.1:c.-1267-45G>C	NP_001278522.1:n.-1267-45G>C
NM_001291593.2:c.-1267-45G>C	NP_001278522.1:n.-1267-45G>C
NM_001291594.1:c.-1088+5872G>C	NP_001278523.1:n.-1088+5872G>C
NM_001291594.2:c.-1088+5872G>C	NP_001278523.1:n.-1088+5872G>C
NM_015102.4:c.-38-45G>C	NP_055917.1:n.-38-45G>C
NR_111987.1:n.231-45G>C
NR_111987.2:n.183-45G>C
ENST00000378156.8:c.-38-45G>C	ENSP00000367398.4:n.-38-45G>C
ENST00000378169.7:c.-38-45G>C	ENSP00000367411.3:n.-38-45G>C
ENST00000478423.6:n.181+5872G>C
ENST00000489180.6:c.-38-45G>C	ENSP00000423747.1:n.-38-45G>C
ENST00000622020.4:c.-38-45G>C	ENSP00000481831.2:n.-38-45G>C
XM_006710563.2:c.-38-45G>C	XP_006710626.1:n.-38-45G>C
XM_006710563.3:c.-38-45G>C	XP_006710626.1:n.-38-45G>C
XM_006710565.2:c.-38-45G>C	XP_006710628.1:n.-38-45G>C
XM_011541216.1:c.-38-45G>C	XP_011539518.1:n.-38-45G>C
XM_011541216.2:c.-38-45G>C	XP_011539518.1:n.-38-45G>C
XM_011541217.1:c.-38-45G>C	XP_011539519.1:n.-38-45G>C
XM_011541217.2:c.-38-45G>C	XP_011539519.1:n.-38-45G>C
XM_011541218.1:c.-38-45G>C	XP_011539520.1:n.-38-45G>C
XM_011541218.2:c.-38-45G>C	XP_011539520.1:n.-38-45G>C
XM_011541219.1:c.4-140G>C	XP_011539521.1:n.4-140G>C
XM_017000997.1:c.-38-45G>C	XP_016856486.1:n.-38-45G>C
XM_017000999.1:c.-471-140G>C	XP_016856488.1:n.-471-140G>C