Canonical Allele Identifier: CA9389671
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs774378931
ExAC: 19:36317460 C / G
gnomAD v2: 19-36317460-C-G
MyVariant Identifiers: chr19:g.36317460C>G (hg19) chr19:g.35826558C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826558C>G , CM000681.2:g.35826558C>G GRCh38
NC_000019.9:g.36317460C>G , CM000681.1:g.36317460C>G GRCh37
NC_000019.8:g.41009300C>G NCBI36
NG_013356.2:g.47730G>C , LRG_693:g.47730G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.3682G>C MANE Select ENSP00000368190.4:p.Glu1228Gln
ENST00000353632.6:c.3562G>C ENSP00000343634.5:p.Glu1188Gln
ENST00000378910.9:c.3682G>C ENSP00000368190.4:p.Glu1228Gln
NM_004646.3:c.3682G>C , LRG_693t1:c.3682G>C NP_004637.1:p.Glu1228Gln
NM_004646.4:c.3682G>C MANE Select NP_004637.1:p.Glu1228Gln
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