Canonical Allele Identifier: CA8750664

Gene: NHERF1

Linked Data

• dbSNP Id: rs777243879
• ExAC: 17:72759498 C / T
• MyVariant Identifiers: chr17:g.72759498C>T (hg19) ; chr17:g.74763359C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74763359C>T , CM000679.2:g.74763359C>T	GRCh38
NC_000017.10:g.72759498C>T , CM000679.1:g.72759498C>T	GRCh37
NC_000017.9:g.70271093C>T	NCBI36
NG_013022.1:g.19736C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262613.10:c.604-8C>T MANE Select	ENSP00000262613.5:n.604-8C>T
ENST00000262613.9:c.604-8C>T	ENSP00000262613.5:n.604-8C>T
ENST00000413388.2:c.136-8C>T	ENSP00000464982.1:n.136-8C>T
ENST00000578958.1:n.330C>T
ENST00000583369.5:c.442-4788C>T	ENSP00000464321.1:n.442-4788C>T
NM_004252.4:c.604-8C>T	NP_004243.1:n.604-8C>T
XR_002958087.1:n.823-8C>T
NM_004252.5:c.604-8C>T MANE Select	NP_004243.1:n.604-8C>T