Canonical Allele Identifier: CA2499225448
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1149648
ClinVar RCV Id: RCV001489949
dbSNP Id: rs2146819639
gnomAD v4: 19-35842372-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35842372T>C , CM000681.2:g.35842372T>C GRCh38
NC_000019.9:g.36333274T>C , CM000681.1:g.36333274T>C GRCh37
NC_000019.8:g.41025114T>C NCBI36
NG_013356.2:g.31916A>G , LRG_693:g.31916A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.2506+7A>G MANE Select ENSP00000368190.4:n.2506+7A>G
ENST00000353632.6:c.2506+7A>G ENSP00000343634.5:n.2506+7A>G
ENST00000378910.9:c.2506+7A>G ENSP00000368190.4:n.2506+7A>G
NM_004646.3:c.2506+7A>G , LRG_693t1:c.2506+7A>G NP_004637.1:n.2506+7A>G
NM_004646.4:c.2506+7A>G MANE Select NP_004637.1:n.2506+7A>G
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