Canonical Allele Identifier: CA17124798

Gene: NPHP4

Linked Data

• dbSNP Id: rs1042350378
• gnomAD v2: 1-5923901-C-G
• gnomAD v4: 1-5863841-C-G
• MyVariant Identifiers: chr1:g.5923901C>G (hg19) ; chr1:g.5863841C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.5863841C>G , CM000663.2:g.5863841C>G	GRCh38
NC_000001.10:g.5923901C>G , CM000663.1:g.5923901C>G	GRCh37
NC_000001.9:g.5846488C>G	NCBI36
NG_011724.2:g.133631G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378156.9:c.4140+49G>C MANE Select	ENSP00000367398.4:n.4140+49G>C
ENST00000378156.8:c.4140+49G>C	ENSP00000367398.4:n.4140+49G>C
ENST00000378161.5:n.3340G>C
ENST00000378169.7:c.*3041+49G>C	ENSP00000367411.3:n.*3041+49G>C
ENST00000460696.1:n.2937G>C
ENST00000478423.6:n.3872+49G>C
ENST00000489180.6:c.*1951+49G>C	ENSP00000423747.1:n.*1951+49G>C
NM_001291593.1:c.2601+49G>C	NP_001278522.1:n.2601+49G>C
NM_001291594.1:c.2604+49G>C	NP_001278523.1:n.2604+49G>C
NM_015102.4:c.4140+49G>C	NP_055917.1:n.4140+49G>C
NR_111987.1:n.4955+49G>C
XM_006710563.2:c.4140+49G>C	XP_006710626.1:n.4140+49G>C
XM_006710565.2:c.4140+49G>C	XP_006710628.1:n.4140+49G>C
XM_011541213.1:c.4137+49G>C	XP_011539515.1:n.4137+49G>C
XM_011541214.1:c.4098+49G>C	XP_011539516.1:n.4098+49G>C
XM_011541215.1:c.4029+49G>C	XP_011539517.1:n.4029+49G>C
XM_011541216.1:c.4140+49G>C	XP_011539518.1:n.4140+49G>C
XM_011541217.1:c.4140+49G>C	XP_011539519.1:n.4140+49G>C
XM_011541218.1:c.4140+49G>C	XP_011539520.1:n.4140+49G>C
XM_011541219.1:c.4086+49G>C	XP_011539521.1:n.4086+49G>C
XM_006710563.3:c.4140+49G>C	XP_006710626.1:n.4140+49G>C
XM_011541216.2:c.4140+49G>C	XP_011539518.1:n.4140+49G>C
XM_011541217.2:c.4140+49G>C	XP_011539519.1:n.4140+49G>C
XM_011541218.2:c.4140+49G>C	XP_011539520.1:n.4140+49G>C
XM_017000996.1:c.4095+49G>C	XP_016856485.1:n.4095+49G>C
XM_017000997.1:c.4140+49G>C	XP_016856486.1:n.4140+49G>C
XM_017000999.1:c.3612+49G>C	XP_016856488.1:n.3612+49G>C
XM_017001000.2:c.3612+49G>C	XP_016856489.1:n.3612+49G>C
XM_017001001.1:c.3342+49G>C	XP_016856490.1:n.3342+49G>C
XM_017001003.1:c.2601+49G>C	XP_016856492.1:n.2601+49G>C
XR_001737114.1:n.4006+49G>C
XR_001737115.1:n.3991+49G>C
NM_015102.5:c.4140+49G>C MANE Select	NP_055917.1:n.4140+49G>C
NM_001291593.2:c.2601+49G>C	NP_001278522.1:n.2601+49G>C
NM_001291594.2:c.2604+49G>C	NP_001278523.1:n.2604+49G>C
NR_111987.2:n.4907+49G>C