Canonical Allele Identifier: CA405400164

Gene: NPHS1

Linked Data

• MyVariant Identifiers: chr19:g.36336939A>T (hg19) ; chr19:g.35846037A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35846037A>T , CM000681.2:g.35846037A>T	GRCh38
NC_000019.9:g.36336939A>T , CM000681.1:g.36336939A>T	GRCh37
NC_000019.8:g.41028779A>T	NCBI36
NG_013356.2:g.28251T>A , LRG_693:g.28251T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1598T>A MANE Select	ENSP00000368190.4:p.Leu533His
ENST00000353632.6:c.1598T>A	ENSP00000343634.5:p.Leu533His
ENST00000378910.9:c.1598T>A	ENSP00000368190.4:p.Leu533His
NM_004646.3:c.1598T>A , LRG_693t1:c.1598T>A	NP_004637.1:p.Leu533His
NM_004646.4:c.1598T>A MANE Select	NP_004637.1:p.Leu533His