Canonical Allele Identifier: CA117368
Gene: NHERF1 HGNC NCBI
ClinVar Variation:
dbSNP:
gnomAD v4:
MyVariant.info:
Revel Score:

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