Canonical Allele Identifier: CA8750690
Gene: NHERF1 HGNC NCBI

Linked Data

dbSNP Id: rs779864198
ExAC: 17:72759580 C / G
gnomAD v2: 17-72759580-C-G
gnomAD v4: 17-74763441-C-G
MyVariant Identifiers: chr17:g.72759580C>G (hg19) chr17:g.74763441C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763441C>G , CM000679.2:g.74763441C>G GRCh38
NC_000017.10:g.72759580C>G , CM000679.1:g.72759580C>G GRCh37
NC_000017.9:g.70271175C>G NCBI36
NG_013022.1:g.19818C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262613.10:c.678C>G MANE Select ENSP00000262613.5:p.Thr226=
ENST00000262613.9:c.678C>G ENSP00000262613.5:p.Thr226=
ENST00000413388.2:c.210C>G ENSP00000464982.1:p.Thr70=
ENST00000578958.1:n.412C>G
ENST00000581356.1:c.14C>G
ENST00000583369.5:c.442-4706C>G ENSP00000464321.1:n.442-4706C>G
NM_004252.4:c.678C>G NP_004243.1:p.Thr226=
XR_002958087.1:n.897C>G
NM_004252.5:c.678C>G MANE Select NP_004243.1:p.Thr226=
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