Canonical Allele Identifier: CA400940123

Gene: NHERF1

Linked Data

• MyVariant Identifiers: chr17:g.72759579C>T (hg19) ; chr17:g.74763440C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000262613.10:c.677C>T MANE Select	ENSP00000262613.5:p.Thr226Ile
ENST00000262613.9:c.677C>T	ENSP00000262613.5:p.Thr226Ile
ENST00000413388.2:c.209C>T	ENSP00000464982.1:p.Thr70Ile
ENST00000578958.1:n.411C>T
ENST00000581356.1:c.13C>T
ENST00000583369.5:c.442-4707C>T	ENSP00000464321.1:n.442-4707C>T
NM_004252.4:c.677C>T	NP_004243.1:p.Thr226Ile
XR_002958087.1:n.896C>T
NM_004252.5:c.677C>T MANE Select	NP_004243.1:p.Thr226Ile