Canonical Allele Identifier: CA2333847136
Gene: NPHS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35841648C= , CM000681.2:g.35841648C= GRCh38
NC_000019.9:g.36332550C= , CM000681.1:g.36332550C= GRCh37
NC_000019.8:g.41024390C= NCBI36
NG_013356.2:g.32640G= , LRG_693:g.32640G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.2815+67G= MANE Select ENSP00000368190.4:n.2815+67G=
ENST00000353632.6:c.2815+67G= ENSP00000343634.5:n.2815+67G=
ENST00000378910.9:c.2815+67G= ENSP00000368190.4:n.2815+67G=
NM_004646.3:c.2815+67G= , LRG_693t1:c.2815+67G= NP_004637.1:n.2815+67G=
NM_004646.4:c.2815+67G= MANE Select NP_004637.1:n.2815+67G=
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