Canonical Allele Identifier: CA9389685
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs780296540
ExAC: 19:36317543 G / T
gnomAD v2: 19-36317543-G-T
gnomAD v3: 19-35826641-G-T
gnomAD v4: 19-35826641-G-T
MyVariant Identifiers: chr19:g.36317543G>T (hg19) chr19:g.35826641G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826641G>T , CM000681.2:g.35826641G>T GRCh38
NC_000019.9:g.36317543G>T , CM000681.1:g.36317543G>T GRCh37
NC_000019.8:g.41009383G>T NCBI36
NG_013356.2:g.47647C>A , LRG_693:g.47647C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.3599C>A MANE Select ENSP00000368190.4:p.Pro1200His
ENST00000353632.6:c.3479C>A ENSP00000343634.5:p.Pro1160His
ENST00000378910.9:c.3599C>A ENSP00000368190.4:p.Pro1200His
NM_004646.3:c.3599C>A , LRG_693t1:c.3599C>A NP_004637.1:p.Pro1200His
NM_004646.4:c.3599C>A MANE Select NP_004637.1:p.Pro1200His
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