Canonical Allele Identifier: CA8750702
Gene: NHERF1 HGNC NCBI

Linked Data

dbSNP Id: rs201989899
ExAC: 17:72759627 G / A
gnomAD v2: 17-72759627-G-A
gnomAD v3: 17-74763488-G-A
gnomAD v4: 17-74763488-G-A
MyVariant Identifiers: chr17:g.72759627G>A (hg19) chr17:g.74763488G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763488G>A , CM000679.2:g.74763488G>A GRCh38
NC_000017.10:g.72759627G>A , CM000679.1:g.72759627G>A GRCh37
NC_000017.9:g.70271222G>A NCBI36
NG_013022.1:g.19865G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000262613.10:c.725G>A MANE Select ENSP00000262613.5:p.Cys242Tyr
ENST00000262613.9:c.725G>A ENSP00000262613.5:p.Cys242Tyr
ENST00000413388.2:c.257G>A ENSP00000464982.1:p.Cys86Tyr
ENST00000578958.1:n.459G>A
ENST00000581356.1:c.61G>A
ENST00000583369.5:c.442-4659G>A ENSP00000464321.1:n.442-4659G>A
NM_004252.4:c.725G>A NP_004243.1:p.Cys242Tyr
XR_002958087.1:n.944G>A
NM_004252.5:c.725G>A MANE Select NP_004243.1:p.Cys242Tyr
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