Canonical Allele Identifier: CA250199

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 56481
• ClinVar RCV Id: RCV000049894 ; RCV001328088 ; RCV001388273 ; RCV002251954
• dbSNP Id: rs386833920
• ExAC: 19:36333093 G / A
• gnomAD v2: 19-36333093-G-A
• gnomAD v4: 19-35842191-G-A
• COSMIC: COSM5880658
• MyVariant Identifiers: chr19:g.36333093G>A (hg19) ; chr19:g.35842191G>A (hg38)
• PubMed: PMID:18503012

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35842191G>A , CM000681.2:g.35842191G>A	GRCh38
NC_000019.9:g.36333093G>A , CM000681.1:g.36333093G>A	GRCh37
NC_000019.8:g.41024933G>A	NCBI36
NG_013356.2:g.32097C>T , LRG_693:g.32097C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.2596C>T MANE Select	ENSP00000368190.4:p.Arg866Ter
ENST00000353632.6:c.2596C>T	ENSP00000343634.5:p.Arg866Ter
ENST00000378910.9:c.2596C>T	ENSP00000368190.4:p.Arg866Ter
NM_004646.3:c.2596C>T , LRG_693t1:c.2596C>T	NP_004637.1:p.Arg866Ter
NM_004646.4:c.2596C>T MANE Select	NP_004637.1:p.Arg866Ter