Canonical Allele Identifier: CA8750666
Gene: NHERF1 HGNC NCBI

Linked Data

dbSNP Id: rs200045088
ExAC: 17:72759500 C / G
gnomAD v2: 17-72759500-C-G
gnomAD v3: 17-74763361-C-G
gnomAD v4: 17-74763361-C-G
MyVariant Identifiers: chr17:g.72759500C>G (hg19) chr17:g.74763361C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763361C>G , CM000679.2:g.74763361C>G GRCh38
NC_000017.10:g.72759500C>G , CM000679.1:g.72759500C>G GRCh37
NC_000017.9:g.70271095C>G NCBI36
NG_013022.1:g.19738C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262613.10:c.604-6C>G MANE Select ENSP00000262613.5:n.604-6C>G
ENST00000262613.9:c.604-6C>G ENSP00000262613.5:n.604-6C>G
ENST00000413388.2:c.136-6C>G ENSP00000464982.1:n.136-6C>G
ENST00000578958.1:n.332C>G
ENST00000583369.5:c.442-4786C>G ENSP00000464321.1:n.442-4786C>G
NM_004252.4:c.604-6C>G NP_004243.1:n.604-6C>G
XR_002958087.1:n.823-6C>G
NM_004252.5:c.604-6C>G MANE Select NP_004243.1:n.604-6C>G
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