Canonical Allele Identifier: CA400940273
Gene: NHERF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.72759617T>C (hg19) chr17:g.74763478T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763478T>C , CM000679.2:g.74763478T>C GRCh38
NC_000017.10:g.72759617T>C , CM000679.1:g.72759617T>C GRCh37
NC_000017.9:g.70271212T>C NCBI36
NG_013022.1:g.19855T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262613.10:c.715T>C MANE Select ENSP00000262613.5:p.Phe239Leu
ENST00000262613.9:c.715T>C ENSP00000262613.5:p.Phe239Leu
ENST00000413388.2:c.247T>C ENSP00000464982.1:p.Phe83Leu
ENST00000578958.1:n.449T>C
ENST00000581356.1:c.51T>C
ENST00000583369.5:c.442-4669T>C ENSP00000464321.1:n.442-4669T>C
NM_004252.4:c.715T>C NP_004243.1:p.Phe239Leu
XR_002958087.1:n.934T>C
NM_004252.5:c.715T>C MANE Select NP_004243.1:p.Phe239Leu
Search 100 bp 5'
Search 100 bp 3'