Canonical Allele Identifier: CA250034

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 6867
• ClinVar RCV Id: RCV000007270 ; RCV001390942
• dbSNP Id: rs137853042
• ExAC: 19:36322260 G / A
• gnomAD v2: 19-36322260-G-A
• gnomAD v3: 19-35831358-G-A
• gnomAD v4: 19-35831358-G-A
• MyVariant Identifiers: chr19:g.36322260G>A (hg19) ; chr19:g.35831358G>A (hg38)
• PubMed: PMID:9660941 ; PMID:9915943 ; PMID:11854170 ; PMID:20507940

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35831358G>A , CM000681.2:g.35831358G>A	GRCh38
NC_000019.9:g.36322260G>A , CM000681.1:g.36322260G>A	GRCh37
NC_000019.8:g.41014100G>A	NCBI36
NG_013356.2:g.42930C>T , LRG_693:g.42930C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.3325C>T MANE Select	ENSP00000368190.4:p.Arg1109Ter
ENST00000353632.6:c.3205C>T	ENSP00000343634.5:p.Arg1069Ter
ENST00000378910.9:c.3325C>T	ENSP00000368190.4:p.Arg1109Ter
NM_004646.3:c.3325C>T , LRG_693t1:c.3325C>T	NP_004637.1:p.Arg1109Ter
NM_004646.4:c.3325C>T MANE Select	NP_004637.1:p.Arg1109Ter