Canonical Allele Identifier: CA293941599
Gene: NHERF1 HGNC NCBI

Linked Data

dbSNP Id: rs985361838
gnomAD v2: 17-72759490-C-T
gnomAD v3: 17-74763351-C-T
gnomAD v4: 17-74763351-C-T
MyVariant Identifiers: chr17:g.72759490C>T (hg19) chr17:g.74763351C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763351C>T , CM000679.2:g.74763351C>T GRCh38
NC_000017.10:g.72759490C>T , CM000679.1:g.72759490C>T GRCh37
NC_000017.9:g.70271085C>T NCBI36
NG_013022.1:g.19728C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000262613.10:c.604-16C>T MANE Select ENSP00000262613.5:n.604-16C>T
ENST00000262613.9:c.604-16C>T ENSP00000262613.5:n.604-16C>T
ENST00000413388.2:c.136-16C>T ENSP00000464982.1:n.136-16C>T
ENST00000578958.1:n.322C>T
ENST00000583369.5:c.442-4796C>T ENSP00000464321.1:n.442-4796C>T
NM_004252.4:c.604-16C>T NP_004243.1:n.604-16C>T
XR_002958087.1:n.823-16C>T
NM_004252.5:c.604-16C>T MANE Select NP_004243.1:n.604-16C>T
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