Canonical Allele Identifier: CA995486796
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1003802729
gnomAD v3: 19-35848511-C-G
gnomAD v4: 19-35848511-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848511C>G , CM000681.2:g.35848511C>G GRCh38
NC_000019.9:g.36339413C>G , CM000681.1:g.36339413C>G GRCh37
NC_000019.8:g.41031253C>G NCBI36
NG_013356.2:g.25777G>C , LRG_693:g.25777G>C
NG_051206.1:g.1877C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1171-114G>C MANE Select ENSP00000368190.4:n.1171-114G>C
ENST00000353632.6:c.1171-114G>C ENSP00000343634.5:n.1171-114G>C
ENST00000378910.9:c.1171-114G>C ENSP00000368190.4:n.1171-114G>C
ENST00000592132.1:n.178-114G>C
NM_004646.3:c.1171-114G>C , LRG_693t1:c.1171-114G>C NP_004637.1:n.1171-114G>C
NM_004646.4:c.1171-114G>C MANE Select NP_004637.1:n.1171-114G>C
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