Canonical Allele Identifier: CA9390652
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 496273
dbSNP Id: rs749341977

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849274G>A , CM000681.2:g.35849274G>A GRCh38
NC_000019.9:g.36340176G>A , CM000681.1:g.36340176G>A GRCh37
NC_000019.8:g.41032016G>A NCBI36
NG_013356.2:g.25014C>T , LRG_693:g.25014C>T
NG_051206.1:g.2640G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.802C>T MANE Select ENSP00000368190.4:p.Arg268Ter
ENST00000353632.6:c.802C>T ENSP00000343634.5:p.Arg268Ter
ENST00000378910.9:c.802C>T ENSP00000368190.4:p.Arg268Ter
NM_004646.3:c.802C>T , LRG_693t1:c.802C>T NP_004637.1:p.Arg268Ter
NM_004646.4:c.802C>T MANE Select NP_004637.1:p.Arg268Ter