Canonical Allele Identifier: CA10651760
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 328843
ClinVar RCV Id: RCV000373081
dbSNP Id: rs564256430
gnomAD v2: 19-36316396-G-A
gnomAD v3: 19-35825494-G-A
gnomAD v4: 19-35825494-G-A
MyVariant Identifiers: chr19:g.36316396G>A (hg19) chr19:g.35825494G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35825494G>A , CM000681.2:g.35825494G>A GRCh38
NC_000019.9:g.36316396G>A , CM000681.1:g.36316396G>A GRCh37
NC_000019.8:g.41008236G>A NCBI36
NG_013356.2:g.48794C>T , LRG_693:g.48794C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.*1020C>T MANE Select ENSP00000368190.4:n.*1020C>T
NM_004646.3:c.*1020C>T , LRG_693t1:c.*1020C>T NP_004637.1:n.*1020C>T
NM_004646.4:c.*1020C>T MANE Select NP_004637.1:n.*1020C>T
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