Canonical Allele Identifier: CA405407057
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2099614
ClinVar RCV Id: RCV003023091
COSMIC: COSM6365217
MyVariant Identifiers: chr19:g.36340170C>G (hg19) chr19:g.35849268C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849268C>G , CM000681.2:g.35849268C>G GRCh38
NC_000019.9:g.36340170C>G , CM000681.1:g.36340170C>G GRCh37
NC_000019.8:g.41032010C>G NCBI36
NG_013356.2:g.25020G>C , LRG_693:g.25020G>C
NG_051206.1:g.2634C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.808G>C MANE Select ENSP00000368190.4:p.Gly270Arg
ENST00000353632.6:c.808G>C ENSP00000343634.5:p.Gly270Arg
ENST00000378910.9:c.808G>C ENSP00000368190.4:p.Gly270Arg
NM_004646.3:c.808G>C , LRG_693t1:c.808G>C NP_004637.1:p.Gly270Arg
NM_004646.4:c.808G>C MANE Select NP_004637.1:p.Gly270Arg
Search 100 bp 5'
Search 100 bp 3'