Canonical Allele Identifier: CA995486783
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1290991748
gnomAD v3: 19-35848498-T-A
gnomAD v4: 19-35848498-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848498T>A , CM000681.2:g.35848498T>A GRCh38
NC_000019.9:g.36339400T>A , CM000681.1:g.36339400T>A GRCh37
NC_000019.8:g.41031240T>A NCBI36
NG_013356.2:g.25790A>T , LRG_693:g.25790A>T
NG_051206.1:g.1864T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1171-101A>T MANE Select ENSP00000368190.4:n.1171-101A>T
ENST00000353632.6:c.1171-101A>T ENSP00000343634.5:n.1171-101A>T
ENST00000378910.9:c.1171-101A>T ENSP00000368190.4:n.1171-101A>T
ENST00000592132.1:n.178-101A>T
NM_004646.3:c.1171-101A>T , LRG_693t1:c.1171-101A>T NP_004637.1:n.1171-101A>T
NM_004646.4:c.1171-101A>T MANE Select NP_004637.1:n.1171-101A>T
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