Canonical Allele Identifier: CA400940121
Gene: NHERF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.72759579C>A (hg19) chr17:g.74763440C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763440C>A , CM000679.2:g.74763440C>A GRCh38
NC_000017.10:g.72759579C>A , CM000679.1:g.72759579C>A GRCh37
NC_000017.9:g.70271174C>A NCBI36
NG_013022.1:g.19817C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262613.10:c.677C>A MANE Select ENSP00000262613.5:p.Thr226Asn
ENST00000262613.9:c.677C>A ENSP00000262613.5:p.Thr226Asn
ENST00000413388.2:c.209C>A ENSP00000464982.1:p.Thr70Asn
ENST00000578958.1:n.411C>A
ENST00000581356.1:c.13C>A
ENST00000583369.5:c.442-4707C>A ENSP00000464321.1:n.442-4707C>A
NM_004252.4:c.677C>A NP_004243.1:p.Thr226Asn
XR_002958087.1:n.896C>A
NM_004252.5:c.677C>A MANE Select NP_004243.1:p.Thr226Asn
Search 100 bp 5'
Search 100 bp 3'