Canonical Allele Identifier: CA307787369
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs768103268
gnomAD v2: 19-36339549-G-A
gnomAD v4: 19-35848647-G-A
MyVariant Identifiers: chr19:g.36339549G>A (hg19) chr19:g.35848647G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848647G>A , CM000681.2:g.35848647G>A GRCh38
NC_000019.9:g.36339549G>A , CM000681.1:g.36339549G>A GRCh37
NC_000019.8:g.41031389G>A NCBI36
NG_013356.2:g.25641C>T , LRG_693:g.25641C>T
NG_051206.1:g.2013G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1160C>T MANE Select ENSP00000368190.4:p.Thr387Ile
ENST00000353632.6:c.1160C>T ENSP00000343634.5:p.Thr387Ile
ENST00000378910.9:c.1160C>T ENSP00000368190.4:p.Thr387Ile
ENST00000592132.1:n.167C>T
NM_004646.3:c.1160C>T , LRG_693t1:c.1160C>T NP_004637.1:p.Thr387Ile
NM_004646.4:c.1160C>T MANE Select NP_004637.1:p.Thr387Ile
Search 100 bp 5'
Search 100 bp 3'