Canonical Allele Identifier: CA405407007
Gene: NPHS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.36340146A>G (hg19) chr19:g.35849244A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849244A>G , CM000681.2:g.35849244A>G GRCh38
NC_000019.9:g.36340146A>G , CM000681.1:g.36340146A>G GRCh37
NC_000019.8:g.41031986A>G NCBI36
NG_013356.2:g.25044T>C , LRG_693:g.25044T>C
NG_051206.1:g.2610A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.832T>C MANE Select ENSP00000368190.4:p.Trp278Arg
ENST00000353632.6:c.832T>C ENSP00000343634.5:p.Trp278Arg
ENST00000378910.9:c.832T>C ENSP00000368190.4:p.Trp278Arg
NM_004646.3:c.832T>C , LRG_693t1:c.832T>C NP_004637.1:p.Trp278Arg
NM_004646.4:c.832T>C MANE Select NP_004637.1:p.Trp278Arg
Search 100 bp 5'
Search 100 bp 3'