Canonical Allele Identifier: CA633060967
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1376084095
gnomAD v2: 19-36339131-T-TG
gnomAD v4: 19-35848229-T-TG
MyVariant Identifiers: chr19:g.36339131_36339132insG (hg19) chr19:g.35848229_35848230insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848230dup , CM000681.2:g.35848230dup GRCh38
NC_000019.9:g.36339132dup , CM000681.1:g.36339132dup GRCh37
NC_000019.8:g.41030972dup NCBI36
NG_013356.2:g.26058dup , LRG_693:g.26058dup
NG_051206.1:g.1596dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1315+23dup MANE Select ENSP00000368190.4:n.1315+23dup
ENST00000353632.6:c.1315+23dup ENSP00000343634.5:n.1315+23dup
ENST00000378910.9:c.1315+23dup ENSP00000368190.4:n.1315+23dup
ENST00000592132.1:n.322+23dup
NM_004646.3:c.1315+23dup , LRG_693t1:c.1315+23dup NP_004637.1:n.1315+23dup
NM_004646.4:c.1315+23dup MANE Select NP_004637.1:n.1315+23dup
Search 100 bp 5'
Search 100 bp 3'