Canonical Allele Identifier: CA507314317
Gene: NPHS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.36338991C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848089C>A , CM000681.2:g.35848089C>A GRCh38
NC_000019.9:g.36338991C>A , CM000681.1:g.36338991C>A GRCh37
NC_000019.8:g.41030831C>A NCBI36
NG_013356.2:g.26199G>T , LRG_693:g.26199G>T
NG_051206.1:g.1455C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1392G>T MANE Select ENSP00000368190.4:p.Val464=
ENST00000353632.6:c.1392G>T ENSP00000343634.5:p.Val464=
ENST00000378910.9:c.1392G>T ENSP00000368190.4:p.Val464=
ENST00000592132.1:n.399G>T
NM_004646.3:c.1392G>T , LRG_693t1:c.1392G>T NP_004637.1:p.Val464=
NM_004646.4:c.1392G>T MANE Select NP_004637.1:p.Val464=