Canonical Allele Identifier: CA9390925
Gene: NPHS1 HGNC NCBI
KIRREL2 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.35851677G>C
GRCh37 chr19:g.36342579G>C
gnomAD v2:
19:36342579 G / C
gnomAD v3:
19:35851677 G / C
gnomAD v4:
chr19-35851677-G-C
Joint Max Group AF 0.06036472 (AFR)
Genomes Max Group AF 0.06046112 (AFR)
Exomes Max Group AF 0.05888103 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.35851677G>C , CM000681.2:g.35851677G>C GRCh38
NC_000019.9:g.36342579G>C , CM000681.1:g.36342579G>C GRCh37
NC_000019.8:g.41034419G>C NCBI36
NG_013356.2:g.22611C>G , LRG_693:g.22611C>G
NG_051206.1:g.5043G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378910.10:c.59-5C>G (NPHS1) MANE Select ENSP00000368190.4:n.59-5C>G
ENST00000353632.6:c.59-5C>G (NPHS1) ENSP00000343634.5:n.59-5C>G
ENST00000378910.9:c.59-5C>G (NPHS1) ENSP00000368190.4:n.59-5C>G
ENST00000591817.1:n.560-5C>G (NPHS1)
NM_004646.3:c.59-5C>G , LRG_693t1:c.59-5C>G (NPHS1) NP_004637.1:n.59-5C>G
XM_011527362.1:c.-230G>C (KIRREL2) XP_011525664.1:n.-230G>C
XM_011527363.1:c.-221G>C (KIRREL2) XP_011525665.1:n.-221G>C
XM_011527364.1:c.-230G>C (KIRREL2) XP_011525666.1:n.-230G>C
XM_011527365.1:c.-230G>C (KIRREL2) XP_011525667.1:n.-230G>C
NM_004646.4:c.59-5C>G (NPHS1) MANE Select NP_004637.1:n.59-5C>G
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