Canonical Allele Identifier: CA2576758561
Gene: NPHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826493A>G , CM000681.2:g.35826493A>G GRCh38
NC_000019.9:g.36317395A>G , CM000681.1:g.36317395A>G GRCh37
NC_000019.8:g.41009235A>G NCBI36
NG_013356.2:g.47795T>C , LRG_693:g.47795T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.*21T>C MANE Select ENSP00000368190.4:n.*21T>C
ENST00000353632.6:c.*21T>C ENSP00000343634.5:n.*21T>C
ENST00000378910.9:c.3747T>C ENSP00000368190.4:n.3747T>C
NM_004646.3:c.*21T>C , LRG_693t1:c.*21T>C NP_004637.1:n.*21T>C
NM_004646.4:c.*21T>C MANE Select NP_004637.1:n.*21T>C
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