Canonical Allele Identifier: CA658823767
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 550289
ClinVar RCV Id: RCV000664995
dbSNP Id: rs1555763503
MyVariant Identifiers: chr19:g.35849267dup (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849271dup , CM000681.2:g.35849271dup GRCh38
NC_000019.9:g.36340173dup , CM000681.1:g.36340173dup GRCh37
NC_000019.8:g.41032013dup NCBI36
NG_013356.2:g.25021dup , LRG_693:g.25021dup
NG_051206.1:g.2637dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.809dup MANE Select ENSP00000368190.4:p.Asn271Ter
ENST00000353632.6:c.809dup ENSP00000343634.5:p.Asn271Ter
ENST00000378910.9:c.809dup ENSP00000368190.4:p.Asn271Ter
NM_004646.3:c.809dup , LRG_693t1:c.809dup NP_004637.1:p.Asn271Ter
NM_004646.4:c.809dup MANE Select NP_004637.1:p.Asn271Ter
Search 100 bp 5'
Search 100 bp 3'