Canonical Allele Identifier: CA2333849249
Gene: NPHS1 HGNC NCBI
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1610C= MANE Select ENSP00000368190.4:p.Thr537=
ENST00000353632.6:c.1610C= ENSP00000343634.5:p.Thr537=
ENST00000378910.9:c.1610C= ENSP00000368190.4:p.Thr537=
NM_004646.3:c.1610C= , LRG_693t1:c.1610C= NP_004637.1:p.Thr537=
NM_004646.4:c.1610C= MANE Select NP_004637.1:p.Thr537=
Search 100 bp 5'
Search 100 bp 3'