Canonical Allele Identifier: CA16041975
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 370623
ClinVar RCV Id: RCV000409058
dbSNP Id: rs1057516637
MyVariant Identifiers: chr19:g.36326658dupG (hg19) chr19:g.36326657_36326658insG (hg19) chr19:g.35835756dupG (hg38) chr19:g.35835755_35835756insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35835757dup , CM000681.2:g.35835757dup GRCh38
NC_000019.9:g.36326659dup , CM000681.1:g.36326659dup GRCh37
NC_000019.8:g.41018499dup NCBI36
NG_013356.2:g.38532dup , LRG_693:g.38532dup

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.3115dup MANE Select ENSP00000368190.4:p.His1039ProfsTer8
ENST00000353632.6:c.3115dup ENSP00000343634.5:p.His1039ProfsTer8
ENST00000378910.9:c.3115dup ENSP00000368190.4:p.His1039ProfsTer8
NM_004646.3:c.3115dup , LRG_693t1:c.3115dup NP_004637.1:p.His1039ProfsTer8
NM_004646.4:c.3115dup MANE Select NP_004637.1:p.His1039ProfsTer8
Search 100 bp 5'
Search 100 bp 3'