Canonical Allele Identifier: CA633061266
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1364547457
gnomAD v2: 19-36333237-G-A
gnomAD v3: 19-35842335-G-A
gnomAD v4: 19-35842335-G-A
MyVariant Identifiers: chr19:g.36333237G>A (hg19) chr19:g.35842335G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35842335G>A , CM000681.2:g.35842335G>A GRCh38
NC_000019.9:g.36333237G>A , CM000681.1:g.36333237G>A GRCh37
NC_000019.8:g.41025077G>A NCBI36
NG_013356.2:g.31953C>T , LRG_693:g.31953C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.2506+44C>T MANE Select ENSP00000368190.4:n.2506+44C>T
ENST00000353632.6:c.2506+44C>T ENSP00000343634.5:n.2506+44C>T
ENST00000378910.9:c.2506+44C>T ENSP00000368190.4:n.2506+44C>T
NM_004646.3:c.2506+44C>T , LRG_693t1:c.2506+44C>T NP_004637.1:n.2506+44C>T
NM_004646.4:c.2506+44C>T MANE Select NP_004637.1:n.2506+44C>T
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