Canonical Allele Identifier: CA9390541
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs767578020

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848671C>T , CM000681.2:g.35848671C>T GRCh38
NC_000019.9:g.36339573C>T , CM000681.1:g.36339573C>T GRCh37
NC_000019.8:g.41031413C>T NCBI36
NG_013356.2:g.25617G>A , LRG_693:g.25617G>A
NG_051206.1:g.2037C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1136G>A MANE Select ENSP00000368190.4:p.Arg379Gln
ENST00000353632.6:c.1136G>A ENSP00000343634.5:p.Arg379Gln
ENST00000378910.9:c.1136G>A ENSP00000368190.4:p.Arg379Gln
ENST00000592132.1:n.143G>A
NM_004646.3:c.1136G>A , LRG_693t1:c.1136G>A NP_004637.1:p.Arg379Gln
NM_004646.4:c.1136G>A MANE Select NP_004637.1:p.Arg379Gln