Canonical Allele Identifier: CA250079

Gene: NPHS1

Linked Data

• ClinVar Variation Id: 56417
• ClinVar RCV Id: RCV000049830 ; RCV003421960
• dbSNP Id: rs386833861
• ExAC: 19:36339690 G / T
• gnomAD v2: 19-36339690-G-T
• gnomAD v4: 19-35848788-G-T
• MyVariant Identifiers: chr19:g.36339690G>T (hg19) ; chr19:g.35848788G>T (hg38)
• PubMed: PMID:20172850

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35848788G>T , CM000681.2:g.35848788G>T	GRCh38
NC_000019.9:g.36339690G>T , CM000681.1:g.36339690G>T	GRCh37
NC_000019.8:g.41031530G>T	NCBI36
NG_013356.2:g.25500C>A , LRG_693:g.25500C>A
NG_051206.1:g.2154G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1019C>A MANE Select	ENSP00000368190.4:p.Pro340His
ENST00000353632.6:c.1019C>A	ENSP00000343634.5:p.Pro340His
ENST00000378910.9:c.1019C>A	ENSP00000368190.4:p.Pro340His
ENST00000592132.1:n.26C>A
NM_004646.3:c.1019C>A , LRG_693t1:c.1019C>A	NP_004637.1:p.Pro340His
NM_004646.4:c.1019C>A MANE Select	NP_004637.1:p.Pro340His