Canonical Allele Identifier: CA405415107
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1972803358
gnomAD v3: 19-35826578-G-A
gnomAD v4: 19-35826578-G-A
COSMIC: COSM6416723
MyVariant Identifiers: chr19:g.36317480G>A (hg19) chr19:g.35826578G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826578G>A , CM000681.2:g.35826578G>A GRCh38
NC_000019.9:g.36317480G>A , CM000681.1:g.36317480G>A GRCh37
NC_000019.8:g.41009320G>A NCBI36
NG_013356.2:g.47710C>T , LRG_693:g.47710C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.3662C>T MANE Select ENSP00000368190.4:p.Ala1221Val
ENST00000353632.6:c.3542C>T ENSP00000343634.5:p.Ala1181Val
ENST00000378910.9:c.3662C>T ENSP00000368190.4:p.Ala1221Val
NM_004646.3:c.3662C>T , LRG_693t1:c.3662C>T NP_004637.1:p.Ala1221Val
NM_004646.4:c.3662C>T MANE Select NP_004637.1:p.Ala1221Val
Search 100 bp 5'
Search 100 bp 3'