Canonical Allele Identifier: CA400940439
Gene: NHERF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.72759647G>C (hg19) chr17:g.74763508G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763508G>C , CM000679.2:g.74763508G>C GRCh38
NC_000017.10:g.72759647G>C , CM000679.1:g.72759647G>C GRCh37
NC_000017.9:g.70271242G>C NCBI36
NG_013022.1:g.19885G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262613.10:c.745G>C MANE Select ENSP00000262613.5:p.Glu249Gln
ENST00000262613.9:c.745G>C ENSP00000262613.5:p.Glu249Gln
ENST00000413388.2:c.277G>C ENSP00000464982.1:p.Glu93Gln
ENST00000578958.1:n.479G>C
ENST00000581356.1:c.81G>C
ENST00000583369.5:c.442-4639G>C ENSP00000464321.1:n.442-4639G>C
NM_004252.4:c.745G>C NP_004243.1:p.Glu249Gln
XR_002958087.1:n.964G>C
NM_004252.5:c.745G>C MANE Select NP_004243.1:p.Glu249Gln
Search 100 bp 5'
Search 100 bp 3'