Canonical Allele Identifier: CA9390089

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 1712391
• ClinVar RCV Id: RCV002294646 ; RCV003097856
• dbSNP Id: rs148115230
• ExAC: 19:36333146 T / G
• gnomAD v2: 19-36333146-T-G
• gnomAD v3: 19-35842244-T-G
• gnomAD v4: 19-35842244-T-G
• MyVariant Identifiers: chr19:g.36333146T>G (hg19) ; chr19:g.35842244T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35842244T>G , CM000681.2:g.35842244T>G	GRCh38
NC_000019.9:g.36333146T>G , CM000681.1:g.36333146T>G	GRCh37
NC_000019.8:g.41024986T>G	NCBI36
NG_013356.2:g.32044A>C , LRG_693:g.32044A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.2543A>C MANE Select	ENSP00000368190.4:p.Lys848Thr
ENST00000353632.6:c.2543A>C	ENSP00000343634.5:p.Lys848Thr
ENST00000378910.9:c.2543A>C	ENSP00000368190.4:p.Lys848Thr
NM_004646.3:c.2543A>C , LRG_693t1:c.2543A>C	NP_004637.1:p.Lys848Thr
NM_004646.4:c.2543A>C MANE Select	NP_004637.1:p.Lys848Thr