Canonical Allele Identifier: CA405400125
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1973135271
gnomAD v4: 19-35846017-C-T
MyVariant Identifiers: chr19:g.36336919C>T (hg19) chr19:g.35846017C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35846017C>T , CM000681.2:g.35846017C>T GRCh38
NC_000019.9:g.36336919C>T , CM000681.1:g.36336919C>T GRCh37
NC_000019.8:g.41028759C>T NCBI36
NG_013356.2:g.28271G>A , LRG_693:g.28271G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1618G>A MANE Select ENSP00000368190.4:p.Ala540Thr
ENST00000353632.6:c.1618G>A ENSP00000343634.5:p.Ala540Thr
ENST00000378910.9:c.1618G>A ENSP00000368190.4:p.Ala540Thr
NM_004646.3:c.1618G>A , LRG_693t1:c.1618G>A NP_004637.1:p.Ala540Thr
NM_004646.4:c.1618G>A MANE Select NP_004637.1:p.Ala540Thr
Search 100 bp 5'
Search 100 bp 3'