Canonical Allele Identifier: CA400940137
Gene: NHERF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.72759587C>A (hg19) chr17:g.74763448C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763448C>A , CM000679.2:g.74763448C>A GRCh38
NC_000017.10:g.72759587C>A , CM000679.1:g.72759587C>A GRCh37
NC_000017.9:g.70271182C>A NCBI36
NG_013022.1:g.19825C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262613.10:c.685C>A MANE Select ENSP00000262613.5:p.Leu229Met
ENST00000262613.9:c.685C>A ENSP00000262613.5:p.Leu229Met
ENST00000413388.2:c.217C>A ENSP00000464982.1:p.Leu73Met
ENST00000578958.1:n.419C>A
ENST00000581356.1:c.21C>A
ENST00000583369.5:c.442-4699C>A ENSP00000464321.1:n.442-4699C>A
NM_004252.4:c.685C>A NP_004243.1:p.Leu229Met
XR_002958087.1:n.904C>A
NM_004252.5:c.685C>A MANE Select NP_004243.1:p.Leu229Met
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