Canonical Allele Identifier: CA2333840046
Gene: NPHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826609G= , CM000681.2:g.35826609G= GRCh38
NC_000019.9:g.36317511G= , CM000681.1:g.36317511G= GRCh37
NC_000019.8:g.41009351G= NCBI36
NG_013356.2:g.47679C= , LRG_693:g.47679C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.3631C= MANE Select ENSP00000368190.4:p.Gln1211=
ENST00000353632.6:c.3511C= ENSP00000343634.5:p.Gln1171=
ENST00000378910.9:c.3631C= ENSP00000368190.4:p.Gln1211=
NM_004646.3:c.3631C= , LRG_693t1:c.3631C= NP_004637.1:p.Gln1211=
NM_004646.4:c.3631C= MANE Select NP_004637.1:p.Gln1211=
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