Canonical Allele Identifier: CA405415052
Gene: NPHS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.36317452A>T (hg19) chr19:g.35826550A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826550A>T , CM000681.2:g.35826550A>T GRCh38
NC_000019.9:g.36317452A>T , CM000681.1:g.36317452A>T GRCh37
NC_000019.8:g.41009292A>T NCBI36
NG_013356.2:g.47738T>A , LRG_693:g.47738T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.3690T>A MANE Select ENSP00000368190.4:p.Asp1230Glu
ENST00000353632.6:c.3570T>A ENSP00000343634.5:p.Asp1190Glu
ENST00000378910.9:c.3690T>A ENSP00000368190.4:p.Asp1230Glu
NM_004646.3:c.3690T>A , LRG_693t1:c.3690T>A NP_004637.1:p.Asp1230Glu
NM_004646.4:c.3690T>A MANE Select NP_004637.1:p.Asp1230Glu
Search 100 bp 5'
Search 100 bp 3'