Canonical Allele Identifier: CA507085296
Gene: NPHS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.36339689A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848787A>G , CM000681.2:g.35848787A>G GRCh38
NC_000019.9:g.36339689A>G , CM000681.1:g.36339689A>G GRCh37
NC_000019.8:g.41031529A>G NCBI36
NG_013356.2:g.25501T>C , LRG_693:g.25501T>C
NG_051206.1:g.2153A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1020T>C MANE Select ENSP00000368190.4:p.Pro340=
ENST00000353632.6:c.1020T>C ENSP00000343634.5:p.Pro340=
ENST00000378910.9:c.1020T>C ENSP00000368190.4:p.Pro340=
ENST00000592132.1:n.27T>C
NM_004646.3:c.1020T>C , LRG_693t1:c.1020T>C NP_004637.1:p.Pro340=
NM_004646.4:c.1020T>C MANE Select NP_004637.1:p.Pro340=