Canonical Allele Identifier: CA507091293
Gene: NPHS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.36317452A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826550A>G , CM000681.2:g.35826550A>G GRCh38
NC_000019.9:g.36317452A>G , CM000681.1:g.36317452A>G GRCh37
NC_000019.8:g.41009292A>G NCBI36
NG_013356.2:g.47738T>C , LRG_693:g.47738T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.3690T>C MANE Select ENSP00000368190.4:p.Asp1230=
ENST00000353632.6:c.3570T>C ENSP00000343634.5:p.Asp1190=
ENST00000378910.9:c.3690T>C ENSP00000368190.4:p.Asp1230=
NM_004646.3:c.3690T>C , LRG_693t1:c.3690T>C NP_004637.1:p.Asp1230=
NM_004646.4:c.3690T>C MANE Select NP_004637.1:p.Asp1230=
Search 100 bp 5'
Search 100 bp 3'