Canonical Allele Identifier: CA2576758600

Gene: NPHS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35831042T>G , CM000681.2:g.35831042T>G	GRCh38
NC_000019.9:g.36321944T>G , CM000681.1:g.36321944T>G	GRCh37
NC_000019.8:g.41013784T>G	NCBI36
NG_013356.2:g.43246A>C , LRG_693:g.43246A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000378910.10:c.3481+11A>C MANE Select	ENSP00000368190.4:n.3481+11A>C
ENST00000353632.6:c.3361+11A>C	ENSP00000343634.5:n.3361+11A>C
ENST00000378910.9:c.3481+11A>C	ENSP00000368190.4:n.3481+11A>C
NM_004646.3:c.3481+11A>C , LRG_693t1:c.3481+11A>C	NP_004637.1:n.3481+11A>C
NM_004646.4:c.3481+11A>C MANE Select	NP_004637.1:n.3481+11A>C