Canonical Allele Identifier: CA405407172
Gene: NPHS1 HGNC NCBI

Linked Data

gnomAD v4: 19-35849328-G-T
MyVariant Identifiers: chr19:g.36340230G>T (hg19) chr19:g.35849328G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35849328G>T , CM000681.2:g.35849328G>T GRCh38
NC_000019.9:g.36340230G>T , CM000681.1:g.36340230G>T GRCh37
NC_000019.8:g.41032070G>T NCBI36
NG_013356.2:g.24960C>A , LRG_693:g.24960C>A
NG_051206.1:g.2694G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.748C>A MANE Select ENSP00000368190.4:p.Leu250Met
ENST00000353632.6:c.748C>A ENSP00000343634.5:p.Leu250Met
ENST00000378910.9:c.748C>A ENSP00000368190.4:p.Leu250Met
NM_004646.3:c.748C>A , LRG_693t1:c.748C>A NP_004637.1:p.Leu250Met
NM_004646.4:c.748C>A MANE Select NP_004637.1:p.Leu250Met
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