Canonical Allele Identifier: CA117370
Gene: NHERF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 5272
ClinVar RCV Id: RCV000005590 RCV000454997 RCV000662330 RCV002054417 RCV003914810
dbSNP Id: rs119486097
ExAC: 17:72759575 G / A
gnomAD v2: 17-72759575-G-A
gnomAD v3: 17-74763436-G-A
gnomAD v4: 17-74763436-G-A
MyVariant Identifiers: chr17:g.72759575G>A (hg19) chr17:g.72759575_72759576delinsAA (hg19) chr17:g.74763436G>A (hg38)
PubMed: PMID:18784102
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763436G>A , CM000679.2:g.74763436G>A GRCh38
NC_000017.10:g.72759575G>A , CM000679.1:g.72759575G>A GRCh37
NC_000017.9:g.70271170G>A NCBI36
NG_013022.1:g.19813G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262613.10:c.673G>A MANE Select ENSP00000262613.5:p.Glu225Lys
ENST00000262613.9:c.673G>A ENSP00000262613.5:p.Glu225Lys
ENST00000413388.2:c.205G>A ENSP00000464982.1:p.Glu69Lys
ENST00000578958.1:n.407G>A
ENST00000581356.1:c.9G>A
ENST00000583369.5:c.442-4711G>A ENSP00000464321.1:n.442-4711G>A
NM_004252.4:c.673G>A NP_004243.1:p.Glu225Lys
XR_002958087.1:n.892G>A
NM_004252.5:c.673G>A MANE Select NP_004243.1:p.Glu225Lys
Search 100 bp 5'
Search 100 bp 3'