Canonical Allele Identifier: CA8750708

Gene: NHERF1

Linked Data

• ClinVar Variation Id: 3020596
• ClinVar RCV Id: RCV003879755
• dbSNP Id: rs372233444
• ExAC: 17:72759677 A / G
• gnomAD v2: 17-72759677-A-G
• gnomAD v3: 17-74763538-A-G
• gnomAD v4: 17-74763538-A-G
• MyVariant Identifiers: chr17:g.72759677A>G (hg19) ; chr17:g.74763538A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74763538A>G , CM000679.2:g.74763538A>G	GRCh38
NC_000017.10:g.72759677A>G , CM000679.1:g.72759677A>G	GRCh37
NC_000017.9:g.70271272A>G	NCBI36
NG_013022.1:g.19915A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262613.10:c.757+18A>G MANE Select	ENSP00000262613.5:n.757+18A>G
ENST00000262613.9:c.757+18A>G	ENSP00000262613.5:n.757+18A>G
ENST00000413388.2:c.289+18A>G	ENSP00000464982.1:n.289+18A>G
ENST00000578958.1:n.491+18A>G
ENST00000581356.1:c.93+18A>G
ENST00000583369.5:c.442-4609A>G	ENSP00000464321.1:n.442-4609A>G
NM_004252.4:c.757+18A>G	NP_004243.1:n.757+18A>G
XR_002958087.1:n.994A>G
NM_004252.5:c.757+18A>G MANE Select	NP_004243.1:n.757+18A>G