Canonical Allele Identifier: CA400940326

Gene: NHERF1

Linked Data

• gnomAD v4: 17-74763487-T-C
• MyVariant Identifiers: chr17:g.72759626T>C (hg19) ; chr17:g.74763487T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74763487T>C , CM000679.2:g.74763487T>C	GRCh38
NC_000017.10:g.72759626T>C , CM000679.1:g.72759626T>C	GRCh37
NC_000017.9:g.70271221T>C	NCBI36
NG_013022.1:g.19864T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262613.10:c.724T>C MANE Select	ENSP00000262613.5:p.Cys242Arg
ENST00000262613.9:c.724T>C	ENSP00000262613.5:p.Cys242Arg
ENST00000413388.2:c.256T>C	ENSP00000464982.1:p.Cys86Arg
ENST00000578958.1:n.458T>C
ENST00000581356.1:c.60T>C
ENST00000583369.5:c.442-4660T>C	ENSP00000464321.1:n.442-4660T>C
NM_004252.4:c.724T>C	NP_004243.1:p.Cys242Arg
XR_002958087.1:n.943T>C
NM_004252.5:c.724T>C MANE Select	NP_004243.1:p.Cys242Arg