Canonical Allele Identifier: CA405407064
Gene: NPHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849271C>T , CM000681.2:g.35849271C>T GRCh38
NC_000019.9:g.36340173C>T , CM000681.1:g.36340173C>T GRCh37
NC_000019.8:g.41032013C>T NCBI36
NG_013356.2:g.25017G>A , LRG_693:g.25017G>A
NG_051206.1:g.2637C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.805G>A MANE Select ENSP00000368190.4:p.Gly269Arg
ENST00000353632.6:c.805G>A ENSP00000343634.5:p.Gly269Arg
ENST00000378910.9:c.805G>A ENSP00000368190.4:p.Gly269Arg
NM_004646.3:c.805G>A , LRG_693t1:c.805G>A NP_004637.1:p.Gly269Arg
NM_004646.4:c.805G>A MANE Select NP_004637.1:p.Gly269Arg