Canonical Allele Identifier: CA307787204
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs559778214
gnomAD v2: 19-36339346-C-T
gnomAD v3: 19-35848444-C-T
gnomAD v4: 19-35848444-C-T
MyVariant Identifiers: chr19:g.36339346C>T (hg19) chr19:g.35848444C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848444C>T , CM000681.2:g.35848444C>T GRCh38
NC_000019.9:g.36339346C>T , CM000681.1:g.36339346C>T GRCh37
NC_000019.8:g.41031186C>T NCBI36
NG_013356.2:g.25844G>A , LRG_693:g.25844G>A
NG_051206.1:g.1810C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1171-47G>A MANE Select ENSP00000368190.4:n.1171-47G>A
ENST00000353632.6:c.1171-47G>A ENSP00000343634.5:n.1171-47G>A
ENST00000378910.9:c.1171-47G>A ENSP00000368190.4:n.1171-47G>A
ENST00000592132.1:n.178-47G>A
NM_004646.3:c.1171-47G>A , LRG_693t1:c.1171-47G>A NP_004637.1:n.1171-47G>A
NM_004646.4:c.1171-47G>A MANE Select NP_004637.1:n.1171-47G>A
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