Canonical Allele Identifier: CA507091297
Gene: NPHS1 HGNC NCBI

Linked Data

gnomAD v4: 19-35826553-G-C
MyVariant Identifiers: chr19:g.36317455G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35826553G>C , CM000681.2:g.35826553G>C GRCh38
NC_000019.9:g.36317455G>C , CM000681.1:g.36317455G>C GRCh37
NC_000019.8:g.41009295G>C NCBI36
NG_013356.2:g.47735C>G , LRG_693:g.47735C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378910.10:c.3687C>G MANE Select ENSP00000368190.4:p.Pro1229=
ENST00000353632.6:c.3567C>G ENSP00000343634.5:p.Pro1189=
ENST00000378910.9:c.3687C>G ENSP00000368190.4:p.Pro1229=
NM_004646.3:c.3687C>G , LRG_693t1:c.3687C>G NP_004637.1:p.Pro1229=
NM_004646.4:c.3687C>G MANE Select NP_004637.1:p.Pro1229=
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