Canonical Allele Identifier: CA8750689
Gene: NHERF1 HGNC NCBI

Linked Data

dbSNP Id: rs769364805
ExAC: 17:72759575 GA / G
gnomAD v2: 17-72759575-GA-G
gnomAD v4: 17-74763436-GA-G
MyVariant Identifiers: chr17:g.72759576del (hg19) chr17:g.74763437del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763437del , CM000679.2:g.74763437del GRCh38
NC_000017.10:g.72759576del , CM000679.1:g.72759576del GRCh37
NC_000017.9:g.70271171del NCBI36
NG_013022.1:g.19814del

Transcript Alleles

HGVS Amino-acid change
ENST00000262613.10:c.674del MANE Select ENSP00000262613.5:p.Glu225GlyfsTer20
ENST00000262613.9:c.674del ENSP00000262613.5:p.Glu225GlyfsTer20
ENST00000413388.2:c.206del ENSP00000464982.1:p.Glu69GlyfsTer20
ENST00000578958.1:n.408del
ENST00000581356.1:c.10del
ENST00000583369.5:c.442-4710del ENSP00000464321.1:n.442-4710del
NM_004252.4:c.674del NP_004243.1:p.Glu225GlyfsTer20
XR_002958087.1:n.893del
NM_004252.5:c.674del MANE Select NP_004243.1:p.Glu225GlyfsTer20
Search 100 bp 5'
Search 100 bp 3'