Canonical Allele Identifier: CA2333839542
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs1972805093
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826684G>T , CM000681.2:g.35826684G>T GRCh38
NC_000019.9:g.36317586G>T , CM000681.1:g.36317586G>T GRCh37
NC_000019.8:g.41009426G>T NCBI36
NG_013356.2:g.47604C>A , LRG_693:g.47604C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.3595-39C>A MANE Select ENSP00000368190.4:n.3595-39C>A
ENST00000353632.6:c.3475-39C>A ENSP00000343634.5:n.3475-39C>A
ENST00000378910.9:c.3595-39C>A ENSP00000368190.4:n.3595-39C>A
NM_004646.3:c.3595-39C>A , LRG_693t1:c.3595-39C>A NP_004637.1:n.3595-39C>A
NM_004646.4:c.3595-39C>A MANE Select NP_004637.1:n.3595-39C>A
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