Canonical Allele Identifier: CA405400196

Gene: NPHS1

Linked Data

• MyVariant Identifiers: chr19:g.36336954C>G (hg19) ; chr19:g.35846052C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35846052C>G , CM000681.2:g.35846052C>G	GRCh38
NC_000019.9:g.36336954C>G , CM000681.1:g.36336954C>G	GRCh37
NC_000019.8:g.41028794C>G	NCBI36
NG_013356.2:g.28236G>C , LRG_693:g.28236G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1583G>C MANE Select	ENSP00000368190.4:p.Cys528Ser
ENST00000353632.6:c.1583G>C	ENSP00000343634.5:p.Cys528Ser
ENST00000378910.9:c.1583G>C	ENSP00000368190.4:p.Cys528Ser
NM_004646.3:c.1583G>C , LRG_693t1:c.1583G>C	NP_004637.1:p.Cys528Ser
NM_004646.4:c.1583G>C MANE Select	NP_004637.1:p.Cys528Ser