Canonical Allele Identifier: CA2584603388
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2870257
ClinVar RCV Id: RCV003701165
gnomAD v4: 19-35845999-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35845999A>G , CM000681.2:g.35845999A>G GRCh38
NC_000019.9:g.36336901A>G , CM000681.1:g.36336901A>G GRCh37
NC_000019.8:g.41028741A>G NCBI36
NG_013356.2:g.28289T>C , LRG_693:g.28289T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1627+9T>C MANE Select ENSP00000368190.4:n.1627+9T>C
ENST00000353632.6:c.1627+9T>C ENSP00000343634.5:n.1627+9T>C
ENST00000378910.9:c.1627+9T>C ENSP00000368190.4:n.1627+9T>C
NM_004646.3:c.1627+9T>C , LRG_693t1:c.1627+9T>C NP_004637.1:n.1627+9T>C
NM_004646.4:c.1627+9T>C MANE Select NP_004637.1:n.1627+9T>C
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