Canonical Allele Identifier: CA400939967
Gene: NHERF1 HGNC NCBI

Linked Data

gnomAD v4: 17-74763367-G-A
MyVariant Identifiers: chr17:g.72759506G>A (hg19) chr17:g.74763367G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763367G>A , CM000679.2:g.74763367G>A GRCh38
NC_000017.10:g.72759506G>A , CM000679.1:g.72759506G>A GRCh37
NC_000017.9:g.70271101G>A NCBI36
NG_013022.1:g.19744G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262613.10:c.604G>A MANE Select ENSP00000262613.5:p.Val202Met
ENST00000262613.9:c.604G>A ENSP00000262613.5:p.Val202Met
ENST00000413388.2:c.136G>A ENSP00000464982.1:p.Val46Met
ENST00000578958.1:n.338G>A
ENST00000583369.5:c.442-4780G>A ENSP00000464321.1:n.442-4780G>A
NM_004252.4:c.604G>A NP_004243.1:p.Val202Met
XR_002958087.1:n.823G>A
NM_004252.5:c.604G>A MANE Select NP_004243.1:p.Val202Met
Search 100 bp 5'
Search 100 bp 3'