Canonical Allele Identifier: CA405415060
Gene: NPHS1 HGNC NCBI

Linked Data

dbSNP Id: rs2146803234
MyVariant Identifiers: chr19:g.36317456G>T (hg19) chr19:g.35826554G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826554G>T , CM000681.2:g.35826554G>T GRCh38
NC_000019.9:g.36317456G>T , CM000681.1:g.36317456G>T GRCh37
NC_000019.8:g.41009296G>T NCBI36
NG_013356.2:g.47734C>A , LRG_693:g.47734C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.3686C>A MANE Select ENSP00000368190.4:p.Pro1229His
ENST00000353632.6:c.3566C>A ENSP00000343634.5:p.Pro1189His
ENST00000378910.9:c.3686C>A ENSP00000368190.4:p.Pro1229His
NM_004646.3:c.3686C>A , LRG_693t1:c.3686C>A NP_004637.1:p.Pro1229His
NM_004646.4:c.3686C>A MANE Select NP_004637.1:p.Pro1229His
Search 100 bp 5'
Search 100 bp 3'