Canonical Allele Identifier: CA405399657

Gene: NPHS1

Linked Data

• MyVariant Identifiers: chr19:g.36336590A>G (hg19) ; chr19:g.35845688A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35845688A>G , CM000681.2:g.35845688A>G	GRCh38
NC_000019.9:g.36336590A>G , CM000681.1:g.36336590A>G	GRCh37
NC_000019.8:g.41028430A>G	NCBI36
NG_013356.2:g.28600T>C , LRG_693:g.28600T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378910.10:c.1738T>C MANE Select	ENSP00000368190.4:p.Trp580Arg
ENST00000353632.6:c.1738T>C	ENSP00000343634.5:p.Trp580Arg
ENST00000378910.9:c.1738T>C	ENSP00000368190.4:p.Trp580Arg
NM_004646.3:c.1738T>C , LRG_693t1:c.1738T>C	NP_004637.1:p.Trp580Arg
NM_004646.4:c.1738T>C MANE Select	NP_004637.1:p.Trp580Arg