Canonical Allele Identifier: CA250138

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 56448
• ClinVar RCV Id: RCV000049861
• dbSNP Id: rs386833890
• ExAC: 19:36336604 G / T
• gnomAD v2: 19-36336604-G-T
• gnomAD v4: 19-35845702-G-T
• MyVariant Identifiers: chr19:g.36336604G>T (hg19) ; chr19:g.35845702G>T (hg38)
• PubMed: PMID:18614772

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35845702G>T , CM000681.2:g.35845702G>T	GRCh38
NC_000019.9:g.36336604G>T , CM000681.1:g.36336604G>T	GRCh37
NC_000019.8:g.41028444G>T	NCBI36
NG_013356.2:g.28586C>A , LRG_693:g.28586C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1724C>A MANE Select	ENSP00000368190.4:p.Pro575Gln
ENST00000353632.6:c.1724C>A	ENSP00000343634.5:p.Pro575Gln
ENST00000378910.9:c.1724C>A	ENSP00000368190.4:p.Pro575Gln
NM_004646.3:c.1724C>A , LRG_693t1:c.1724C>A	NP_004637.1:p.Pro575Gln
NM_004646.4:c.1724C>A MANE Select	NP_004637.1:p.Pro575Gln