Canonical Allele Identifier: CA2841058091

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35826461A>C , CM000681.2:g.35826461A>C	GRCh38
NC_000019.9:g.36317363A>C , CM000681.1:g.36317363A>C	GRCh37
NC_000019.8:g.41009203A>C	NCBI36
NG_013356.2:g.47827T>G , LRG_693:g.47827T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.*53T>G MANE Select	ENSP00000368190.4:n.*53T>G
ENST00000353632.6:c.*53T>G	ENSP00000343634.5:n.*53T>G
ENST00000378910.9:c.3779T>G	ENSP00000368190.4:n.3779T>G
NM_004646.3:c.*53T>G , LRG_693t1:c.*53T>G	NP_004637.1:n.*53T>G
NM_004646.4:c.*53T>G MANE Select	NP_004637.1:n.*53T>G