Canonical Allele Identifier: CA405407060
Gene: NPHS1 HGNC NCBI

Linked Data

COSMIC: COSM6364828
MyVariant Identifiers: chr19:g.36340172C>T (hg19) chr19:g.35849270C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849270C>T , CM000681.2:g.35849270C>T GRCh38
NC_000019.9:g.36340172C>T , CM000681.1:g.36340172C>T GRCh37
NC_000019.8:g.41032012C>T NCBI36
NG_013356.2:g.25018G>A , LRG_693:g.25018G>A
NG_051206.1:g.2636C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.806G>A MANE Select ENSP00000368190.4:p.Gly269Glu
ENST00000353632.6:c.806G>A ENSP00000343634.5:p.Gly269Glu
ENST00000378910.9:c.806G>A ENSP00000368190.4:p.Gly269Glu
NM_004646.3:c.806G>A , LRG_693t1:c.806G>A NP_004637.1:p.Gly269Glu
NM_004646.4:c.806G>A MANE Select NP_004637.1:p.Gly269Glu
Search 100 bp 5'
Search 100 bp 3'