Canonical Allele Identifier: CA8750693
Gene: NHERF1 HGNC NCBI

Linked Data

dbSNP Id: rs187708072
ExAC: 17:72759587 C / T
gnomAD v2: 17-72759587-C-T
gnomAD v3: 17-74763448-C-T
gnomAD v4: 17-74763448-C-T
MyVariant Identifiers: chr17:g.72759587C>T (hg19) chr17:g.74763448C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763448C>T , CM000679.2:g.74763448C>T GRCh38
NC_000017.10:g.72759587C>T , CM000679.1:g.72759587C>T GRCh37
NC_000017.9:g.70271182C>T NCBI36
NG_013022.1:g.19825C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262613.10:c.685C>T MANE Select ENSP00000262613.5:p.Leu229=
ENST00000262613.9:c.685C>T ENSP00000262613.5:p.Leu229=
ENST00000413388.2:c.217C>T ENSP00000464982.1:p.Leu73=
ENST00000578958.1:n.419C>T
ENST00000581356.1:c.21C>T
ENST00000583369.5:c.442-4699C>T ENSP00000464321.1:n.442-4699C>T
NM_004252.4:c.685C>T NP_004243.1:p.Leu229=
XR_002958087.1:n.904C>T
NM_004252.5:c.685C>T MANE Select NP_004243.1:p.Leu229=
Search 100 bp 5'
Search 100 bp 3'