Canonical Allele Identifier: CA405415069
Gene: NPHS1 HGNC NCBI

Linked Data

COSMIC: COSM6439013
MyVariant Identifiers: chr19:g.36317460C>T (hg19) chr19:g.35826558C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826558C>T , CM000681.2:g.35826558C>T GRCh38
NC_000019.9:g.36317460C>T , CM000681.1:g.36317460C>T GRCh37
NC_000019.8:g.41009300C>T NCBI36
NG_013356.2:g.47730G>A , LRG_693:g.47730G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.3682G>A MANE Select ENSP00000368190.4:p.Glu1228Lys
ENST00000353632.6:c.3562G>A ENSP00000343634.5:p.Glu1188Lys
ENST00000378910.9:c.3682G>A ENSP00000368190.4:p.Glu1228Lys
NM_004646.3:c.3682G>A , LRG_693t1:c.3682G>A NP_004637.1:p.Glu1228Lys
NM_004646.4:c.3682G>A MANE Select NP_004637.1:p.Glu1228Lys
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