Canonical Allele Identifier: CA405416300
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1972874630
MyVariant Identifiers: chr19:g.36322024A>G (hg19) chr19:g.35831122A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35831122A>G , CM000681.2:g.35831122A>G GRCh38
NC_000019.9:g.36322024A>G , CM000681.1:g.36322024A>G GRCh37
NC_000019.8:g.41013864A>G NCBI36
NG_013356.2:g.43166T>C , LRG_693:g.43166T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.3412T>C MANE Select ENSP00000368190.4:p.Tyr1138His
ENST00000353632.6:c.3292T>C ENSP00000343634.5:p.Tyr1098His
ENST00000378910.9:c.3412T>C ENSP00000368190.4:p.Tyr1138His
NM_004646.3:c.3412T>C , LRG_693t1:c.3412T>C NP_004637.1:p.Tyr1138His
NM_004646.4:c.3412T>C MANE Select NP_004637.1:p.Tyr1138His
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