Canonical Allele Identifier: CA8750661
Gene: NHERF1 HGNC NCBI

Linked Data

dbSNP Id: rs781484515
ExAC: 17:72759483 G / A
gnomAD v2: 17-72759483-G-A
gnomAD v3: 17-74763344-G-A
gnomAD v4: 17-74763344-G-A
MyVariant Identifiers: chr17:g.72759483G>A (hg19) chr17:g.74763344G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763344G>A , CM000679.2:g.74763344G>A GRCh38
NC_000017.10:g.72759483G>A , CM000679.1:g.72759483G>A GRCh37
NC_000017.9:g.70271078G>A NCBI36
NG_013022.1:g.19721G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262613.10:c.604-23G>A MANE Select ENSP00000262613.5:n.604-23G>A
ENST00000262613.9:c.604-23G>A ENSP00000262613.5:n.604-23G>A
ENST00000413388.2:c.136-23G>A ENSP00000464982.1:n.136-23G>A
ENST00000578958.1:n.315G>A
ENST00000583369.5:c.442-4803G>A ENSP00000464321.1:n.442-4803G>A
NM_004252.4:c.604-23G>A NP_004243.1:n.604-23G>A
XR_002958087.1:n.823-23G>A
NM_004252.5:c.604-23G>A MANE Select NP_004243.1:n.604-23G>A
Search 100 bp 5'
Search 100 bp 3'