Canonical Allele Identifier: CA2584603916
Gene: NPHS1 HGNC NCBI

Linked Data

gnomAD v4: 19-35849320-C-CT
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849321dup , CM000681.2:g.35849321dup GRCh38
NC_000019.9:g.36340223dup , CM000681.1:g.36340223dup GRCh37
NC_000019.8:g.41032063dup NCBI36
NG_013356.2:g.24967dup , LRG_693:g.24967dup
NG_051206.1:g.2687dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.755dup MANE Select ENSP00000368190.4:p.His254AlafsTer18
ENST00000353632.6:c.755dup ENSP00000343634.5:p.His254AlafsTer18
ENST00000378910.9:c.755dup ENSP00000368190.4:p.His254AlafsTer18
NM_004646.3:c.755dup , LRG_693t1:c.755dup NP_004637.1:p.His254AlafsTer18
NM_004646.4:c.755dup MANE Select NP_004637.1:p.His254AlafsTer18
Search 100 bp 5'
Search 100 bp 3'