Canonical Allele Identifier: CA8750691
Gene: NHERF1 HGNC NCBI

Linked Data

dbSNP Id: rs182986728
ExAC: 17:72759586 G / A
gnomAD v2: 17-72759586-G-A
gnomAD v3: 17-74763447-G-A
gnomAD v4: 17-74763447-G-A
MyVariant Identifiers: chr17:g.72759586G>A (hg19) chr17:g.74763447G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763447G>A , CM000679.2:g.74763447G>A GRCh38
NC_000017.10:g.72759586G>A , CM000679.1:g.72759586G>A GRCh37
NC_000017.9:g.70271181G>A NCBI36
NG_013022.1:g.19824G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262613.10:c.684G>A MANE Select ENSP00000262613.5:p.Leu228=
ENST00000262613.9:c.684G>A ENSP00000262613.5:p.Leu228=
ENST00000413388.2:c.216G>A ENSP00000464982.1:p.Leu72=
ENST00000578958.1:n.418G>A
ENST00000581356.1:c.20G>A
ENST00000583369.5:c.442-4700G>A ENSP00000464321.1:n.442-4700G>A
NM_004252.4:c.684G>A NP_004243.1:p.Leu228=
XR_002958087.1:n.903G>A
NM_004252.5:c.684G>A MANE Select NP_004243.1:p.Leu228=
Search 100 bp 5'
Search 100 bp 3'