Canonical Allele Identifier: CA986264847
Gene: NHERF1 HGNC NCBI

Linked Data

dbSNP Id: rs2034973721
gnomAD v3: 17-74763530-G-A
gnomAD v4: 17-74763530-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763530G>A , CM000679.2:g.74763530G>A GRCh38
NC_000017.10:g.72759669G>A , CM000679.1:g.72759669G>A GRCh37
NC_000017.9:g.70271264G>A NCBI36
NG_013022.1:g.19907G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262613.10:c.757+10G>A MANE Select ENSP00000262613.5:n.757+10G>A
ENST00000262613.9:c.757+10G>A ENSP00000262613.5:n.757+10G>A
ENST00000413388.2:c.289+10G>A ENSP00000464982.1:n.289+10G>A
ENST00000578958.1:n.491+10G>A
ENST00000581356.1:c.93+10G>A
ENST00000583369.5:c.442-4617G>A ENSP00000464321.1:n.442-4617G>A
NM_004252.4:c.757+10G>A NP_004243.1:n.757+10G>A
XR_002958087.1:n.986G>A
NM_004252.5:c.757+10G>A MANE Select NP_004243.1:n.757+10G>A
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