Canonical Allele Identifier: CA775009831
Gene: NHERF1 HGNC NCBI

Linked Data

dbSNP Id: rs1355338765
gnomAD v3: 17-74763363-G-A
gnomAD v4: 17-74763363-G-A
MyVariant Identifiers: chr17:g.72759502G>A (hg19) chr17:g.74763363G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763363G>A , CM000679.2:g.74763363G>A GRCh38
NC_000017.10:g.72759502G>A , CM000679.1:g.72759502G>A GRCh37
NC_000017.9:g.70271097G>A NCBI36
NG_013022.1:g.19740G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262613.10:c.604-4G>A MANE Select ENSP00000262613.5:n.604-4G>A
ENST00000262613.9:c.604-4G>A ENSP00000262613.5:n.604-4G>A
ENST00000413388.2:c.136-4G>A ENSP00000464982.1:n.136-4G>A
ENST00000578958.1:n.334G>A
ENST00000583369.5:c.442-4784G>A ENSP00000464321.1:n.442-4784G>A
NM_004252.4:c.604-4G>A NP_004243.1:n.604-4G>A
XR_002958087.1:n.823-4G>A
NM_004252.5:c.604-4G>A MANE Select NP_004243.1:n.604-4G>A
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