Canonical Allele Identifier: CA400940352

Gene: NHERF1

Linked Data

• dbSNP Id: rs1190440315
• gnomAD v2: 17-72759630-G-C
• gnomAD v4: 17-74763491-G-C
• MyVariant Identifiers: chr17:g.72759630G>C (hg19) ; chr17:g.74763491G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74763491G>C , CM000679.2:g.74763491G>C	GRCh38
NC_000017.10:g.72759630G>C , CM000679.1:g.72759630G>C	GRCh37
NC_000017.9:g.70271225G>C	NCBI36
NG_013022.1:g.19868G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262613.10:c.728G>C MANE Select	ENSP00000262613.5:p.Arg243Thr
ENST00000262613.9:c.728G>C	ENSP00000262613.5:p.Arg243Thr
ENST00000413388.2:c.260G>C	ENSP00000464982.1:p.Arg87Thr
ENST00000578958.1:n.462G>C
ENST00000581356.1:c.64G>C
ENST00000583369.5:c.442-4656G>C	ENSP00000464321.1:n.442-4656G>C
NM_004252.4:c.728G>C	NP_004243.1:p.Arg243Thr
XR_002958087.1:n.947G>C
NM_004252.5:c.728G>C MANE Select	NP_004243.1:p.Arg243Thr