Canonical Allele Identifier: CA400940287
Gene: NHERF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2648233
ClinVar RCV Id: RCV003421473
gnomAD v4: 17-74763481-A-C
MyVariant Identifiers: chr17:g.72759620A>C (hg19) chr17:g.74763481A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763481A>C , CM000679.2:g.74763481A>C GRCh38
NC_000017.10:g.72759620A>C , CM000679.1:g.72759620A>C GRCh37
NC_000017.9:g.70271215A>C NCBI36
NG_013022.1:g.19858A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262613.10:c.718A>C MANE Select ENSP00000262613.5:p.Lys240Gln
ENST00000262613.9:c.718A>C ENSP00000262613.5:p.Lys240Gln
ENST00000413388.2:c.250A>C ENSP00000464982.1:p.Lys84Gln
ENST00000578958.1:n.452A>C
ENST00000581356.1:c.54A>C
ENST00000583369.5:c.442-4666A>C ENSP00000464321.1:n.442-4666A>C
NM_004252.4:c.718A>C NP_004243.1:p.Lys240Gln
XR_002958087.1:n.937A>C
NM_004252.5:c.718A>C MANE Select NP_004243.1:p.Lys240Gln
Search 100 bp 5'
Search 100 bp 3'