Canonical Allele Identifier: CA2639718174
Gene: NHERF1 HGNC NCBI

Linked Data

gnomAD v4: 17-74763533-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763533G>T , CM000679.2:g.74763533G>T GRCh38
NC_000017.10:g.72759672G>T , CM000679.1:g.72759672G>T GRCh37
NC_000017.9:g.70271267G>T NCBI36
NG_013022.1:g.19910G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262613.10:c.757+13G>T MANE Select ENSP00000262613.5:n.757+13G>T
ENST00000262613.9:c.757+13G>T ENSP00000262613.5:n.757+13G>T
ENST00000413388.2:c.289+13G>T ENSP00000464982.1:n.289+13G>T
ENST00000578958.1:n.491+13G>T
ENST00000581356.1:c.93+13G>T
ENST00000583369.5:c.442-4614G>T ENSP00000464321.1:n.442-4614G>T
NM_004252.4:c.757+13G>T NP_004243.1:n.757+13G>T
XR_002958087.1:n.989G>T
NM_004252.5:c.757+13G>T MANE Select NP_004243.1:n.757+13G>T
Search 100 bp 5'
Search 100 bp 3'