Canonical Allele Identifier: CA346563
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 180462
dbSNP Id: rs368913905

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35846025G>A , CM000681.2:g.35846025G>A GRCh38
NC_000019.9:g.36336927G>A , CM000681.1:g.36336927G>A GRCh37
NC_000019.8:g.41028767G>A NCBI36
NG_013356.2:g.28263C>T , LRG_693:g.28263C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1610C>T MANE Select ENSP00000368190.4:p.Thr537Met
ENST00000353632.6:c.1610C>T ENSP00000343634.5:p.Thr537Met
ENST00000378910.9:c.1610C>T ENSP00000368190.4:p.Thr537Met
NM_004646.3:c.1610C>T , LRG_693t1:c.1610C>T NP_004637.1:p.Thr537Met
NM_004646.4:c.1610C>T MANE Select NP_004637.1:p.Thr537Met