Canonical Allele Identifier: CA405415051
Gene: NPHS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.36317452A>C (hg19) chr19:g.35826550A>C (hg38)
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Genomic Alleles

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

Transcript Alleles

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