Canonical Allele Identifier: CA2576758563

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35826501G>C , CM000681.2:g.35826501G>C	GRCh38
NC_000019.9:g.36317403G>C , CM000681.1:g.36317403G>C	GRCh37
NC_000019.8:g.41009243G>C	NCBI36
NG_013356.2:g.47787C>G , LRG_693:g.47787C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.*13C>G MANE Select	ENSP00000368190.4:n.*13C>G
ENST00000353632.6:c.*13C>G	ENSP00000343634.5:n.*13C>G
ENST00000378910.9:c.3739C>G	ENSP00000368190.4:n.3739C>G
NM_004646.3:c.*13C>G , LRG_693t1:c.*13C>G	NP_004637.1:n.*13C>G
NM_004646.4:c.*13C>G MANE Select	NP_004637.1:n.*13C>G