Canonical Allele Identifier: CA2584601229

Gene: NPHS1

Linked Data

• gnomAD v4: 19-35826511-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35826511C>A , CM000681.2:g.35826511C>A	GRCh38
NC_000019.9:g.36317413C>A , CM000681.1:g.36317413C>A	GRCh37
NC_000019.8:g.41009253C>A	NCBI36
NG_013356.2:g.47777G>T , LRG_693:g.47777G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.*3G>T MANE Select	ENSP00000368190.4:n.*3G>T
ENST00000353632.6:c.*3G>T	ENSP00000343634.5:n.*3G>T
ENST00000378910.9:c.3729G>T	ENSP00000368190.4:n.3729G>T
NM_004646.3:c.*3G>T , LRG_693t1:c.*3G>T	NP_004637.1:n.*3G>T
NM_004646.4:c.*3G>T MANE Select	NP_004637.1:n.*3G>T