Canonical Allele Identifier: CA633060995
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1458631933
gnomAD v2: 19-36340410-TC-T
gnomAD v4: 19-35849508-TC-T
MyVariant Identifiers: chr19:g.36340411del (hg19) chr19:g.35849509del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849512del , CM000681.2:g.35849512del GRCh38
NC_000019.9:g.36340414del , CM000681.1:g.36340414del GRCh37
NC_000019.8:g.41032254del NCBI36
NG_013356.2:g.24779del , LRG_693:g.24779del
NG_051206.1:g.2878del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.712+41del MANE Select ENSP00000368190.4:n.712+41del
ENST00000353632.6:c.712+41del ENSP00000343634.5:n.712+41del
ENST00000378910.9:c.712+41del ENSP00000368190.4:n.712+41del
NM_004646.3:c.712+41del , LRG_693t1:c.712+41del NP_004637.1:n.712+41del
NM_004646.4:c.712+41del MANE Select NP_004637.1:n.712+41del
Search 100 bp 5'
Search 100 bp 3'