Canonical Allele Identifier: CA405400174

Gene: NPHS1

Linked Data

• MyVariant Identifiers: chr19:g.36336943G>C (hg19) ; chr19:g.35846041G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35846041G>C , CM000681.2:g.35846041G>C	GRCh38
NC_000019.9:g.36336943G>C , CM000681.1:g.36336943G>C	GRCh37
NC_000019.8:g.41028783G>C	NCBI36
NG_013356.2:g.28247C>G , LRG_693:g.28247C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1594C>G MANE Select	ENSP00000368190.4:p.Gln532Glu
ENST00000353632.6:c.1594C>G	ENSP00000343634.5:p.Gln532Glu
ENST00000378910.9:c.1594C>G	ENSP00000368190.4:p.Gln532Glu
NM_004646.3:c.1594C>G , LRG_693t1:c.1594C>G	NP_004637.1:p.Gln532Glu
NM_004646.4:c.1594C>G MANE Select	NP_004637.1:p.Gln532Glu