Canonical Allele Identifier: CA405400110
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1973135079

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35846010T>C , CM000681.2:g.35846010T>C GRCh38
NC_000019.9:g.36336912T>C , CM000681.1:g.36336912T>C GRCh37
NC_000019.8:g.41028752T>C NCBI36
NG_013356.2:g.28278A>G , LRG_693:g.28278A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1625A>G MANE Select ENSP00000368190.4:p.Gln542Arg
ENST00000353632.6:c.1625A>G ENSP00000343634.5:p.Gln542Arg
ENST00000378910.9:c.1625A>G ENSP00000368190.4:p.Gln542Arg
NM_004646.3:c.1625A>G , LRG_693t1:c.1625A>G NP_004637.1:p.Gln542Arg
NM_004646.4:c.1625A>G MANE Select NP_004637.1:p.Gln542Arg