Canonical Allele Identifier: CA2584603659
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs2146826023
gnomAD v4: 19-35847900-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35847900C>T , CM000681.2:g.35847900C>T GRCh38
NC_000019.9:g.36338802C>T , CM000681.1:g.36338802C>T GRCh37
NC_000019.8:g.41030642C>T NCBI36
NG_013356.2:g.26388G>A , LRG_693:g.26388G>A
NG_051206.1:g.1266C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1440+141G>A MANE Select ENSP00000368190.4:n.1440+141G>A
ENST00000353632.6:c.1440+141G>A ENSP00000343634.5:n.1440+141G>A
ENST00000378910.9:c.1440+141G>A ENSP00000368190.4:n.1440+141G>A
NM_004646.3:c.1440+141G>A , LRG_693t1:c.1440+141G>A NP_004637.1:n.1440+141G>A
NM_004646.4:c.1440+141G>A MANE Select NP_004637.1:n.1440+141G>A
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