Canonical Allele Identifier: CA250275

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 56523
• ClinVar RCV Id: RCV000049936 ; RCV003320551
• dbSNP Id: rs386833961
• ExAC: 19:36340170 C / A
• gnomAD v2: 19-36340170-C-A
• gnomAD v4: 19-35849268-C-A
• MyVariant Identifiers: chr19:g.36340170C>A (hg19) ; chr19:g.35849268C>A (hg38)
• PubMed: PMID:9915943 ; PMID:11854170

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35849268C>A , CM000681.2:g.35849268C>A	GRCh38
NC_000019.9:g.36340170C>A , CM000681.1:g.36340170C>A	GRCh37
NC_000019.8:g.41032010C>A	NCBI36
NG_013356.2:g.25020G>T , LRG_693:g.25020G>T
NG_051206.1:g.2634C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.808G>T MANE Select	ENSP00000368190.4:p.Gly270Cys
ENST00000353632.6:c.808G>T	ENSP00000343634.5:p.Gly270Cys
ENST00000378910.9:c.808G>T	ENSP00000368190.4:p.Gly270Cys
NM_004646.3:c.808G>T , LRG_693t1:c.808G>T	NP_004637.1:p.Gly270Cys
NM_004646.4:c.808G>T MANE Select	NP_004637.1:p.Gly270Cys