Canonical Allele Identifier: CA501761386

Gene: NHERF1

Linked Data

• dbSNP Id: rs1475721809
• gnomAD v2: 17-72759584-C-T
• gnomAD v4: 17-74763445-C-T
• MyVariant Identifiers: chr17:g.72759584C>T (hg19) ; chr17:g.74763445C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74763445C>T , CM000679.2:g.74763445C>T	GRCh38
NC_000017.10:g.72759584C>T , CM000679.1:g.72759584C>T	GRCh37
NC_000017.9:g.70271179C>T	NCBI36
NG_013022.1:g.19822C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262613.10:c.682C>T MANE Select	ENSP00000262613.5:p.Leu228=
ENST00000262613.9:c.682C>T	ENSP00000262613.5:p.Leu228=
ENST00000413388.2:c.214C>T	ENSP00000464982.1:p.Leu72=
ENST00000578958.1:n.416C>T
ENST00000581356.1:c.18C>T
ENST00000583369.5:c.442-4702C>T	ENSP00000464321.1:n.442-4702C>T
NM_004252.4:c.682C>T	NP_004243.1:p.Leu228=
XR_002958087.1:n.901C>T
NM_004252.5:c.682C>T MANE Select	NP_004243.1:p.Leu228=