Canonical Allele Identifier: CA507314388
Gene: NPHS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.36339159T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35848257T>G , CM000681.2:g.35848257T>G GRCh38
NC_000019.9:g.36339159T>G , CM000681.1:g.36339159T>G GRCh37
NC_000019.8:g.41030999T>G NCBI36
NG_013356.2:g.26031A>C , LRG_693:g.26031A>C
NG_051206.1:g.1623T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.1311A>C MANE Select ENSP00000368190.4:p.Val437=
ENST00000353632.6:c.1311A>C ENSP00000343634.5:p.Val437=
ENST00000378910.9:c.1311A>C ENSP00000368190.4:p.Val437=
ENST00000592132.1:n.318A>C
NM_004646.3:c.1311A>C , LRG_693t1:c.1311A>C NP_004637.1:p.Val437=
NM_004646.4:c.1311A>C MANE Select NP_004637.1:p.Val437=
Search 100 bp 5'
Search 100 bp 3'