Canonical Allele Identifier: CA9389983
Gene: NPHS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 328860
ClinVar RCV Id: RCV000295180 RCV002521208 RCV002487443
dbSNP Id: rs374762054
ExAC: 19:36330409 C / A
gnomAD v2: 19-36330409-C-A
gnomAD v3: 19-35839507-C-A
gnomAD v4: 19-35839507-C-A
MyVariant Identifiers: chr19:g.36330409C>A (hg19) chr19:g.35839507C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35839507C>A , CM000681.2:g.35839507C>A GRCh38
NC_000019.9:g.36330409C>A , CM000681.1:g.36330409C>A GRCh37
NC_000019.8:g.41022249C>A NCBI36
NG_013356.2:g.34781G>T , LRG_693:g.34781G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.2916G>T MANE Select ENSP00000368190.4:p.Arg972Ser
ENST00000353632.6:c.2916G>T ENSP00000343634.5:p.Arg972Ser
ENST00000378910.9:c.2916G>T ENSP00000368190.4:p.Arg972Ser
NM_004646.3:c.2916G>T , LRG_693t1:c.2916G>T NP_004637.1:p.Arg972Ser
NM_004646.4:c.2916G>T MANE Select NP_004637.1:p.Arg972Ser
Search 100 bp 5'
Search 100 bp 3'