Canonical Allele Identifier: CA9389683
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs200813102
ExAC: 19:36317517 T / C
gnomAD v2: 19-36317517-T-C
gnomAD v4: 19-35826615-T-C
MyVariant Identifiers: chr19:g.36317517T>C (hg19) chr19:g.35826615T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826615T>C , CM000681.2:g.35826615T>C GRCh38
NC_000019.9:g.36317517T>C , CM000681.1:g.36317517T>C GRCh37
NC_000019.8:g.41009357T>C NCBI36
NG_013356.2:g.47673A>G , LRG_693:g.47673A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.3625A>G MANE Select ENSP00000368190.4:p.Thr1209Ala
ENST00000353632.6:c.3505A>G ENSP00000343634.5:p.Thr1169Ala
ENST00000378910.9:c.3625A>G ENSP00000368190.4:p.Thr1209Ala
NM_004646.3:c.3625A>G , LRG_693t1:c.3625A>G NP_004637.1:p.Thr1209Ala
NM_004646.4:c.3625A>G MANE Select NP_004637.1:p.Thr1209Ala
Search 100 bp 5'
Search 100 bp 3'