Canonical Allele Identifier: CA501761383

Gene: NHERF1

Linked Data

• MyVariant Identifiers: chr17:g.72759580C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74763441C>T , CM000679.2:g.74763441C>T	GRCh38
NC_000017.10:g.72759580C>T , CM000679.1:g.72759580C>T	GRCh37
NC_000017.9:g.70271175C>T	NCBI36
NG_013022.1:g.19818C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262613.10:c.678C>T MANE Select	ENSP00000262613.5:p.Thr226=
ENST00000262613.9:c.678C>T	ENSP00000262613.5:p.Thr226=
ENST00000413388.2:c.210C>T	ENSP00000464982.1:p.Thr70=
ENST00000578958.1:n.412C>T
ENST00000581356.1:c.14C>T
ENST00000583369.5:c.442-4706C>T	ENSP00000464321.1:n.442-4706C>T
NM_004252.4:c.678C>T	NP_004243.1:p.Thr226=
XR_002958087.1:n.897C>T
NM_004252.5:c.678C>T MANE Select	NP_004243.1:p.Thr226=