Canonical Allele Identifier: CA2584603583
Gene: NPHS1 HGNC NCBI

Linked Data

gnomAD v4: 19-35847823-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35847823C>A , CM000681.2:g.35847823C>A GRCh38
NC_000019.9:g.36338725C>A , CM000681.1:g.36338725C>A GRCh37
NC_000019.8:g.41030565C>A NCBI36
NG_013356.2:g.26465G>T , LRG_693:g.26465G>T
NG_051206.1:g.1189C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1440+218G>T MANE Select ENSP00000368190.4:n.1440+218G>T
ENST00000353632.6:c.1440+218G>T ENSP00000343634.5:n.1440+218G>T
ENST00000378910.9:c.1440+218G>T ENSP00000368190.4:n.1440+218G>T
NM_004646.3:c.1440+218G>T , LRG_693t1:c.1440+218G>T NP_004637.1:n.1440+218G>T
NM_004646.4:c.1440+218G>T MANE Select NP_004637.1:n.1440+218G>T
Search 100 bp 5'
Search 100 bp 3'