Canonical Allele Identifier: CA117368
Gene: NHERF1 HGNC NCBI
ClinVar RCV:
RCV000005588
RCV001514734
RCV001701718
ClinVar Variation:
5270
dbSNP:
35910969
gnomAD v2:
17:72745313 C / G
gnomAD v3:
17:74749174 C / G
gnomAD v4:
chr17-74749174-C-G
Joint Max Group AF 0.03065735 (NFE)
Genomes Max Group AF 0.02684856 (NFE)
Exomes Max Group AF 0.03083929 (NFE)
MyVariant.info:
GRCh38 chr17:g.74749174C>G
GRCh37 chr17:g.72745313C>G
Revel Score:
ENST00000262613 (MANE Select) 0.070
ENST00000413388 0.070
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74749174C>G , CM000679.2:g.74749174C>G GRCh38
NC_000017.10:g.72745313C>G , CM000679.1:g.72745313C>G GRCh37
NC_000017.9:g.70256908C>G NCBI36
NG_013022.1:g.5551C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262613.10:c.328C>G MANE Select ENSP00000262613.5:p.Leu110Val
ENST00000262613.9:c.328C>G ENSP00000262613.5:p.Leu110Val
ENST00000583369.5:c.328C>G ENSP00000464321.1:p.Leu110Val
NM_004252.4:c.328C>G NP_004243.1:p.Leu110Val
XR_002958087.1:n.547C>G
NM_004252.5:c.328C>G MANE Select NP_004243.1:p.Leu110Val
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