Canonical Allele Identifier: CA507085988
Gene: NPHS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.36341882A>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35850980A>C , CM000681.2:g.35850980A>C GRCh38
NC_000019.9:g.36341882A>C , CM000681.1:g.36341882A>C GRCh37
NC_000019.8:g.41033722A>C NCBI36
NG_013356.2:g.23308T>G , LRG_693:g.23308T>G
NG_051206.1:g.4346A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.507T>G MANE Select ENSP00000368190.4:p.Pro169=
ENST00000353632.6:c.507T>G ENSP00000343634.5:p.Pro169=
ENST00000378910.9:c.507T>G ENSP00000368190.4:p.Pro169=
NM_004646.3:c.507T>G , LRG_693t1:c.507T>G NP_004637.1:p.Pro169=
NM_004646.4:c.507T>G MANE Select NP_004637.1:p.Pro169=
Search 100 bp 5'
Search 100 bp 3'