Canonical Allele Identifier: CA2584603340
Gene: NPHS1 HGNC NCBI

Linked Data

gnomAD v4: 19-35845968-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35845968T>G , CM000681.2:g.35845968T>G GRCh38
NC_000019.9:g.36336870T>G , CM000681.1:g.36336870T>G GRCh37
NC_000019.8:g.41028710T>G NCBI36
NG_013356.2:g.28320A>C , LRG_693:g.28320A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1627+40A>C MANE Select ENSP00000368190.4:n.1627+40A>C
ENST00000353632.6:c.1627+40A>C ENSP00000343634.5:n.1627+40A>C
ENST00000378910.9:c.1627+40A>C ENSP00000368190.4:n.1627+40A>C
NM_004646.3:c.1627+40A>C , LRG_693t1:c.1627+40A>C NP_004637.1:n.1627+40A>C
NM_004646.4:c.1627+40A>C MANE Select NP_004637.1:n.1627+40A>C
Search 100 bp 5'
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