Canonical Allele Identifier: CA2584601213
Gene: NPHS1 HGNC NCBI

Linked Data

gnomAD v4: 19-35826452-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826452A>G , CM000681.2:g.35826452A>G GRCh38
NC_000019.9:g.36317354A>G , CM000681.1:g.36317354A>G GRCh37
NC_000019.8:g.41009194A>G NCBI36
NG_013356.2:g.47836T>C , LRG_693:g.47836T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.*62T>C MANE Select ENSP00000368190.4:n.*62T>C
ENST00000353632.6:c.*62T>C ENSP00000343634.5:n.*62T>C
ENST00000378910.9:c.3788T>C ENSP00000368190.4:n.3788T>C
NM_004646.3:c.*62T>C , LRG_693t1:c.*62T>C NP_004637.1:n.*62T>C
NM_004646.4:c.*62T>C MANE Select NP_004637.1:n.*62T>C
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