Canonical Allele Identifier: CA507082966

Gene: NPHS1

Linked Data

• MyVariant Identifiers: chr19:g.36336947A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35846045A>T , CM000681.2:g.35846045A>T	GRCh38
NC_000019.9:g.36336947A>T , CM000681.1:g.36336947A>T	GRCh37
NC_000019.8:g.41028787A>T	NCBI36
NG_013356.2:g.28243T>A , LRG_693:g.28243T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1590T>A MANE Select	ENSP00000368190.4:p.Ala530=
ENST00000353632.6:c.1590T>A	ENSP00000343634.5:p.Ala530=
ENST00000378910.9:c.1590T>A	ENSP00000368190.4:p.Ala530=
NM_004646.3:c.1590T>A , LRG_693t1:c.1590T>A	NP_004637.1:p.Ala530=
NM_004646.4:c.1590T>A MANE Select	NP_004637.1:p.Ala530=