Canonical Allele Identifier: CA405400189
Gene: NPHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35846049T>C , CM000681.2:g.35846049T>C GRCh38
NC_000019.9:g.36336951T>C , CM000681.1:g.36336951T>C GRCh37
NC_000019.8:g.41028791T>C NCBI36
NG_013356.2:g.28239A>G , LRG_693:g.28239A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1586A>G MANE Select ENSP00000368190.4:p.Lys529Arg
ENST00000353632.6:c.1586A>G ENSP00000343634.5:p.Lys529Arg
ENST00000378910.9:c.1586A>G ENSP00000368190.4:p.Lys529Arg
NM_004646.3:c.1586A>G , LRG_693t1:c.1586A>G NP_004637.1:p.Lys529Arg
NM_004646.4:c.1586A>G MANE Select NP_004637.1:p.Lys529Arg