Canonical Allele Identifier: CA2639718216
Gene: NHERF1 HGNC NCBI

Linked Data

gnomAD v4: 17-74763547-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763547C>A , CM000679.2:g.74763547C>A GRCh38
NC_000017.10:g.72759686C>A , CM000679.1:g.72759686C>A GRCh37
NC_000017.9:g.70271281C>A NCBI36
NG_013022.1:g.19924C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262613.10:c.757+27C>A MANE Select ENSP00000262613.5:n.757+27C>A
ENST00000262613.9:c.757+27C>A ENSP00000262613.5:n.757+27C>A
ENST00000413388.2:c.289+27C>A ENSP00000464982.1:n.289+27C>A
ENST00000578958.1:n.491+27C>A
ENST00000581356.1:c.93+27C>A
ENST00000583369.5:c.442-4600C>A ENSP00000464321.1:n.442-4600C>A
NM_004252.4:c.757+27C>A NP_004243.1:n.757+27C>A
XR_002958087.1:n.1003C>A
NM_004252.5:c.757+27C>A MANE Select NP_004243.1:n.757+27C>A
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