Canonical Allele Identifier: CA405415062
Gene: NPHS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.36317457G>C (hg19) chr19:g.35826555G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826555G>C , CM000681.2:g.35826555G>C GRCh38
NC_000019.9:g.36317457G>C , CM000681.1:g.36317457G>C GRCh37
NC_000019.8:g.41009297G>C NCBI36
NG_013356.2:g.47733C>G , LRG_693:g.47733C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.3685C>G MANE Select ENSP00000368190.4:p.Pro1229Ala
ENST00000353632.6:c.3565C>G ENSP00000343634.5:p.Pro1189Ala
ENST00000378910.9:c.3685C>G ENSP00000368190.4:p.Pro1229Ala
NM_004646.3:c.3685C>G , LRG_693t1:c.3685C>G NP_004637.1:p.Pro1229Ala
NM_004646.4:c.3685C>G MANE Select NP_004637.1:p.Pro1229Ala
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