Canonical Allele Identifier: CA8750692

Gene: NHERF1

Linked Data

• dbSNP Id: rs182986728
• ExAC: 17:72759586 G / T
• gnomAD v2: 17-72759586-G-T
• gnomAD v4: 17-74763447-G-T
• MyVariant Identifiers: chr17:g.72759586G>T (hg19) ; chr17:g.74763447G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74763447G>T , CM000679.2:g.74763447G>T	GRCh38
NC_000017.10:g.72759586G>T , CM000679.1:g.72759586G>T	GRCh37
NC_000017.9:g.70271181G>T	NCBI36
NG_013022.1:g.19824G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262613.10:c.684G>T MANE Select	ENSP00000262613.5:p.Leu228=
ENST00000262613.9:c.684G>T	ENSP00000262613.5:p.Leu228=
ENST00000413388.2:c.216G>T	ENSP00000464982.1:p.Leu72=
ENST00000578958.1:n.418G>T
ENST00000581356.1:c.20G>T
ENST00000583369.5:c.442-4700G>T	ENSP00000464321.1:n.442-4700G>T
NM_004252.4:c.684G>T	NP_004243.1:p.Leu228=
XR_002958087.1:n.903G>T
NM_004252.5:c.684G>T MANE Select	NP_004243.1:p.Leu228=