Canonical Allele Identifier: CA400940116
Gene: NHERF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.72759577G>C (hg19) chr17:g.74763438G>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000262613.10:c.675G>C MANE Select ENSP00000262613.5:p.Glu225Asp
ENST00000262613.9:c.675G>C ENSP00000262613.5:p.Glu225Asp
ENST00000413388.2:c.207G>C ENSP00000464982.1:p.Glu69Asp
ENST00000578958.1:n.409G>C
ENST00000581356.1:c.11G>C
ENST00000583369.5:c.442-4709G>C ENSP00000464321.1:n.442-4709G>C
NM_004252.4:c.675G>C NP_004243.1:p.Glu225Asp
XR_002958087.1:n.894G>C
NM_004252.5:c.675G>C MANE Select NP_004243.1:p.Glu225Asp
Search 100 bp 5'
Search 100 bp 3'