Canonical Allele Identifier: CA405406271
Gene: NPHS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.36339570T>C (hg19) chr19:g.35848668T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848668T>C , CM000681.2:g.35848668T>C GRCh38
NC_000019.9:g.36339570T>C , CM000681.1:g.36339570T>C GRCh37
NC_000019.8:g.41031410T>C NCBI36
NG_013356.2:g.25620A>G , LRG_693:g.25620A>G
NG_051206.1:g.2034T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1139A>G MANE Select ENSP00000368190.4:p.Gln380Arg
ENST00000353632.6:c.1139A>G ENSP00000343634.5:p.Gln380Arg
ENST00000378910.9:c.1139A>G ENSP00000368190.4:p.Gln380Arg
ENST00000592132.1:n.146A>G
NM_004646.3:c.1139A>G , LRG_693t1:c.1139A>G NP_004637.1:p.Gln380Arg
NM_004646.4:c.1139A>G MANE Select NP_004637.1:p.Gln380Arg
Search 100 bp 5'
Search 100 bp 3'