Canonical Allele Identifier: CA2841522949

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35850902A>T , CM000681.2:g.35850902A>T	GRCh38
NC_000019.9:g.36341804A>T , CM000681.1:g.36341804A>T	GRCh37
NC_000019.8:g.41033644A>T	NCBI36
NG_013356.2:g.23386T>A , LRG_693:g.23386T>A
NG_051206.1:g.4268A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.526+59T>A MANE Select	ENSP00000368190.4:n.526+59T>A
ENST00000353632.6:c.526+59T>A	ENSP00000343634.5:n.526+59T>A
ENST00000378910.9:c.526+59T>A	ENSP00000368190.4:n.526+59T>A
NM_004646.3:c.526+59T>A , LRG_693t1:c.526+59T>A	NP_004637.1:n.526+59T>A
NM_004646.4:c.526+59T>A MANE Select	NP_004637.1:n.526+59T>A