Canonical Allele Identifier: CA250221

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 56494
• ClinVar RCV Id: RCV000049907 ; RCV001169934 ; RCV003330420
• dbSNP Id: rs386833933
• ExAC: 19:36342242 C / T
• gnomAD v2: 19-36342242-C-T
• gnomAD v3: 19-35851340-C-T
• gnomAD v4: 19-35851340-C-T
• COSMIC: COSM3764733
• MyVariant Identifiers: chr19:g.36342242C>T (hg19) ; chr19:g.35851340C>T (hg38)
• PubMed: PMID:18614772

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35851340C>T , CM000681.2:g.35851340C>T	GRCh38
NC_000019.9:g.36342242C>T , CM000681.1:g.36342242C>T	GRCh37
NC_000019.8:g.41034082C>T	NCBI36
NG_013356.2:g.22948G>A , LRG_693:g.22948G>A
NG_051206.1:g.4706C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.319G>A MANE Select	ENSP00000368190.4:p.Ala107Thr
ENST00000353632.6:c.319G>A	ENSP00000343634.5:p.Ala107Thr
ENST00000378910.9:c.319G>A	ENSP00000368190.4:p.Ala107Thr
NM_004646.3:c.319G>A , LRG_693t1:c.319G>A	NP_004637.1:p.Ala107Thr
NM_004646.4:c.319G>A MANE Select	NP_004637.1:p.Ala107Thr