Canonical Allele Identifier: CA9390706

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 290122
• ClinVar RCV Id: RCV000361967 ; RCV001125721 ; RCV001272299 ; RCV003417918
• dbSNP Id: rs115333628
• ExAC: 19:36340506 A / C
• gnomAD v2: 19-36340506-A-C
• gnomAD v3: 19-35849604-A-C
• gnomAD v4: 19-35849604-A-C
• MyVariant Identifiers: chr19:g.36340506A>C (hg19) ; chr19:g.35849604A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35849604A>C , CM000681.2:g.35849604A>C	GRCh38
NC_000019.9:g.36340506A>C , CM000681.1:g.36340506A>C	GRCh37
NC_000019.8:g.41032346A>C	NCBI36
NG_013356.2:g.24684T>G , LRG_693:g.24684T>G
NG_051206.1:g.2970A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.658T>G MANE Select	ENSP00000368190.4:p.Ser220Ala
ENST00000353632.6:c.658T>G	ENSP00000343634.5:p.Ser220Ala
ENST00000378910.9:c.658T>G	ENSP00000368190.4:p.Ser220Ala
NM_004646.3:c.658T>G , LRG_693t1:c.658T>G	NP_004637.1:p.Ser220Ala
NM_004646.4:c.658T>G MANE Select	NP_004637.1:p.Ser220Ala