Canonical Allele Identifier: CA1210326832
Gene: NPHS2 HGNC NCBI

Linked Data

dbSNP Id: rs1572300712
gnomAD v4: 1-179575986-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.179575986T>G , CM000663.2:g.179575986T>G GRCh38
NC_000001.10:g.179545121T>G , CM000663.1:g.179545121T>G GRCh37
NC_000001.9:g.177811744T>G NCBI36
NG_007535.1:g.4964A>C , LRG_887:g.4964A>C

Transcript Alleles

HGVS Amino-acid Change
XM_017002299.1:c.-122A>C XP_016857788.1:n.-122A>C
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