Canonical Allele Identifier: CA400940111
Gene: NHERF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.72759575G>C (hg19) chr17:g.74763436G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763436G>C , CM000679.2:g.74763436G>C GRCh38
NC_000017.10:g.72759575G>C , CM000679.1:g.72759575G>C GRCh37
NC_000017.9:g.70271170G>C NCBI36
NG_013022.1:g.19813G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262613.10:c.673G>C MANE Select ENSP00000262613.5:p.Glu225Gln
ENST00000262613.9:c.673G>C ENSP00000262613.5:p.Glu225Gln
ENST00000413388.2:c.205G>C ENSP00000464982.1:p.Glu69Gln
ENST00000578958.1:n.407G>C
ENST00000581356.1:c.9G>C
ENST00000583369.5:c.442-4711G>C ENSP00000464321.1:n.442-4711G>C
NM_004252.4:c.673G>C NP_004243.1:p.Glu225Gln
XR_002958087.1:n.892G>C
NM_004252.5:c.673G>C MANE Select NP_004243.1:p.Glu225Gln
Search 100 bp 5'
Search 100 bp 3'