Canonical Allele Identifier: CA405406677
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1481823807
MyVariant Identifiers: chr19:g.36339907T>A (hg19) chr19:g.35849005T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849005T>A , CM000681.2:g.35849005T>A GRCh38
NC_000019.9:g.36339907T>A , CM000681.1:g.36339907T>A GRCh37
NC_000019.8:g.41031747T>A NCBI36
NG_013356.2:g.25283A>T , LRG_693:g.25283A>T
NG_051206.1:g.2371T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.983A>T MANE Select ENSP00000368190.4:p.Gln328Leu
ENST00000353632.6:c.983A>T ENSP00000343634.5:p.Gln328Leu
ENST00000378910.9:c.983A>T ENSP00000368190.4:p.Gln328Leu
NM_004646.3:c.983A>T , LRG_693t1:c.983A>T NP_004637.1:p.Gln328Leu
NM_004646.4:c.983A>T MANE Select NP_004637.1:p.Gln328Leu
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