Canonical Allele Identifier: CA501761426

Gene: NHERF1

Linked Data

• gnomAD v3: 17-74763510-G-A
• gnomAD v4: 17-74763510-G-A
• MyVariant Identifiers: chr17:g.72759649G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74763510G>A , CM000679.2:g.74763510G>A	GRCh38
NC_000017.10:g.72759649G>A , CM000679.1:g.72759649G>A	GRCh37
NC_000017.9:g.70271244G>A	NCBI36
NG_013022.1:g.19887G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262613.10:c.747G>A MANE Select	ENSP00000262613.5:p.Glu249=
ENST00000262613.9:c.747G>A	ENSP00000262613.5:p.Glu249=
ENST00000413388.2:c.279G>A	ENSP00000464982.1:p.Glu93=
ENST00000578958.1:n.481G>A
ENST00000581356.1:c.83G>A
ENST00000583369.5:c.442-4637G>A	ENSP00000464321.1:n.442-4637G>A
NM_004252.4:c.747G>A	NP_004243.1:p.Glu249=
XR_002958087.1:n.966G>A
NM_004252.5:c.747G>A MANE Select	NP_004243.1:p.Glu249=