Canonical Allele Identifier: CA2576758562
Gene: NPHS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826497T>C , CM000681.2:g.35826497T>C GRCh38
NC_000019.9:g.36317399T>C , CM000681.1:g.36317399T>C GRCh37
NC_000019.8:g.41009239T>C NCBI36
NG_013356.2:g.47791A>G , LRG_693:g.47791A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.*17A>G MANE Select ENSP00000368190.4:n.*17A>G
ENST00000353632.6:c.*17A>G ENSP00000343634.5:n.*17A>G
ENST00000378910.9:c.3743A>G ENSP00000368190.4:n.3743A>G
NM_004646.3:c.*17A>G , LRG_693t1:c.*17A>G NP_004637.1:n.*17A>G
NM_004646.4:c.*17A>G MANE Select NP_004637.1:n.*17A>G