Canonical Allele Identifier: CA2584603415
Gene: NPHS1 HGNC NCBI

Linked Data

gnomAD v4: 19-35848244-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848244G>A , CM000681.2:g.35848244G>A GRCh38
NC_000019.9:g.36339146G>A , CM000681.1:g.36339146G>A GRCh37
NC_000019.8:g.41030986G>A NCBI36
NG_013356.2:g.26044C>T , LRG_693:g.26044C>T
NG_051206.1:g.1610G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1315+9C>T MANE Select ENSP00000368190.4:n.1315+9C>T
ENST00000353632.6:c.1315+9C>T ENSP00000343634.5:n.1315+9C>T
ENST00000378910.9:c.1315+9C>T ENSP00000368190.4:n.1315+9C>T
ENST00000592132.1:n.322+9C>T
NM_004646.3:c.1315+9C>T , LRG_693t1:c.1315+9C>T NP_004637.1:n.1315+9C>T
NM_004646.4:c.1315+9C>T MANE Select NP_004637.1:n.1315+9C>T
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