Canonical Allele Identifier: CA8750665
Gene: NHERF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2716198
ClinVar RCV Id: RCV003546095
dbSNP Id: rs200045088
ExAC: 17:72759500 C / T
gnomAD v2: 17-72759500-C-T
gnomAD v3: 17-74763361-C-T
gnomAD v4: 17-74763361-C-T
MyVariant Identifiers: chr17:g.72759500C>T (hg19) chr17:g.74763361C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763361C>T , CM000679.2:g.74763361C>T GRCh38
NC_000017.10:g.72759500C>T , CM000679.1:g.72759500C>T GRCh37
NC_000017.9:g.70271095C>T NCBI36
NG_013022.1:g.19738C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262613.10:c.604-6C>T MANE Select ENSP00000262613.5:n.604-6C>T
ENST00000262613.9:c.604-6C>T ENSP00000262613.5:n.604-6C>T
ENST00000413388.2:c.136-6C>T ENSP00000464982.1:n.136-6C>T
ENST00000578958.1:n.332C>T
ENST00000583369.5:c.442-4786C>T ENSP00000464321.1:n.442-4786C>T
NM_004252.4:c.604-6C>T NP_004243.1:n.604-6C>T
XR_002958087.1:n.823-6C>T
NM_004252.5:c.604-6C>T MANE Select NP_004243.1:n.604-6C>T
Search 100 bp 5'
Search 100 bp 3'