Canonical Allele Identifier: CA400940435

Gene: NHERF1

Linked Data

• MyVariant Identifiers: chr17:g.72759646G>T (hg19) ; chr17:g.74763507G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74763507G>T , CM000679.2:g.74763507G>T	GRCh38
NC_000017.10:g.72759646G>T , CM000679.1:g.72759646G>T	GRCh37
NC_000017.9:g.70271241G>T	NCBI36
NG_013022.1:g.19884G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262613.10:c.744G>T MANE Select	ENSP00000262613.5:p.Gln248His
ENST00000262613.9:c.744G>T	ENSP00000262613.5:p.Gln248His
ENST00000413388.2:c.276G>T	ENSP00000464982.1:p.Gln92His
ENST00000578958.1:n.478G>T
ENST00000581356.1:c.80G>T
ENST00000583369.5:c.442-4640G>T	ENSP00000464321.1:n.442-4640G>T
NM_004252.4:c.744G>T	NP_004243.1:p.Gln248His
XR_002958087.1:n.963G>T
NM_004252.5:c.744G>T MANE Select	NP_004243.1:p.Gln248His