Canonical Allele Identifier: CA405404726
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs2077144585
gnomAD v3: 19-35848251-A-C
gnomAD v4: 19-35848251-A-C
MyVariant Identifiers: chr19:g.36339153A>C (hg19) chr19:g.35848251A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848251A>C , CM000681.2:g.35848251A>C GRCh38
NC_000019.9:g.36339153A>C , CM000681.1:g.36339153A>C GRCh37
NC_000019.8:g.41030993A>C NCBI36
NG_013356.2:g.26037T>G , LRG_693:g.26037T>G
NG_051206.1:g.1617A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1315+2T>G MANE Select ENSP00000368190.4:n.1315+2T>G
ENST00000353632.6:c.1315+2T>G ENSP00000343634.5:n.1315+2T>G
ENST00000378910.9:c.1315+2T>G ENSP00000368190.4:n.1315+2T>G
ENST00000592132.1:n.322+2T>G
NM_004646.3:c.1315+2T>G , LRG_693t1:c.1315+2T>G NP_004637.1:n.1315+2T>G
NM_004646.4:c.1315+2T>G MANE Select NP_004637.1:n.1315+2T>G
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