Canonical Allele Identifier: CA2576758732
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs2146818804
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35841644G>T , CM000681.2:g.35841644G>T GRCh38
NC_000019.9:g.36332546G>T , CM000681.1:g.36332546G>T GRCh37
NC_000019.8:g.41024386G>T NCBI36
NG_013356.2:g.32644C>A , LRG_693:g.32644C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.2815+71C>A MANE Select ENSP00000368190.4:n.2815+71C>A
ENST00000353632.6:c.2815+71C>A ENSP00000343634.5:n.2815+71C>A
ENST00000378910.9:c.2815+71C>A ENSP00000368190.4:n.2815+71C>A
NM_004646.3:c.2815+71C>A , LRG_693t1:c.2815+71C>A NP_004637.1:n.2815+71C>A
NM_004646.4:c.2815+71C>A MANE Select NP_004637.1:n.2815+71C>A
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