Canonical Allele Identifier: CA405404287

Gene: NPHS1

Linked Data

• gnomAD v4: 19-35848132-G-A
• MyVariant Identifiers: chr19:g.36339034G>A (hg19) ; chr19:g.35848132G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35848132G>A , CM000681.2:g.35848132G>A	GRCh38
NC_000019.9:g.36339034G>A , CM000681.1:g.36339034G>A	GRCh37
NC_000019.8:g.41030874G>A	NCBI36
NG_013356.2:g.26156C>T , LRG_693:g.26156C>T
NG_051206.1:g.1498G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1349C>T MANE Select	ENSP00000368190.4:p.Pro450Leu
ENST00000353632.6:c.1349C>T	ENSP00000343634.5:p.Pro450Leu
ENST00000378910.9:c.1349C>T	ENSP00000368190.4:p.Pro450Leu
ENST00000592132.1:n.356C>T
NM_004646.3:c.1349C>T , LRG_693t1:c.1349C>T	NP_004637.1:p.Pro450Leu
NM_004646.4:c.1349C>T MANE Select	NP_004637.1:p.Pro450Leu