Canonical Allele Identifier: CA501761380
Gene: NHERF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.72759577G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763438G>A , CM000679.2:g.74763438G>A GRCh38
NC_000017.10:g.72759577G>A , CM000679.1:g.72759577G>A GRCh37
NC_000017.9:g.70271172G>A NCBI36
NG_013022.1:g.19815G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262613.10:c.675G>A MANE Select ENSP00000262613.5:p.Glu225=
ENST00000262613.9:c.675G>A ENSP00000262613.5:p.Glu225=
ENST00000413388.2:c.207G>A ENSP00000464982.1:p.Glu69=
ENST00000578958.1:n.409G>A
ENST00000581356.1:c.11G>A
ENST00000583369.5:c.442-4709G>A ENSP00000464321.1:n.442-4709G>A
NM_004252.4:c.675G>A NP_004243.1:p.Glu225=
XR_002958087.1:n.894G>A
NM_004252.5:c.675G>A MANE Select NP_004243.1:p.Glu225=
Search 100 bp 5'
Search 100 bp 3'