Canonical Allele Identifier: CA507091302
Gene: NPHS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.36317458T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826556T>C , CM000681.2:g.35826556T>C GRCh38
NC_000019.9:g.36317458T>C , CM000681.1:g.36317458T>C GRCh37
NC_000019.8:g.41009298T>C NCBI36
NG_013356.2:g.47732A>G , LRG_693:g.47732A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.3684A>G MANE Select ENSP00000368190.4:p.Glu1228=
ENST00000353632.6:c.3564A>G ENSP00000343634.5:p.Glu1188=
ENST00000378910.9:c.3684A>G ENSP00000368190.4:p.Glu1228=
NM_004646.3:c.3684A>G , LRG_693t1:c.3684A>G NP_004637.1:p.Glu1228=
NM_004646.4:c.3684A>G MANE Select NP_004637.1:p.Glu1228=
Search 100 bp 5'
Search 100 bp 3'