Canonical Allele Identifier: CA400940124
Gene: NHERF1 HGNC NCBI

Linked Data

gnomAD v4: 17-74763442-A-C
MyVariant Identifiers: chr17:g.72759581A>C (hg19) chr17:g.74763442A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763442A>C , CM000679.2:g.74763442A>C GRCh38
NC_000017.10:g.72759581A>C , CM000679.1:g.72759581A>C GRCh37
NC_000017.9:g.70271176A>C NCBI36
NG_013022.1:g.19819A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262613.10:c.679A>C MANE Select ENSP00000262613.5:p.Lys227Gln
ENST00000262613.9:c.679A>C ENSP00000262613.5:p.Lys227Gln
ENST00000413388.2:c.211A>C ENSP00000464982.1:p.Lys71Gln
ENST00000578958.1:n.413A>C
ENST00000581356.1:c.15A>C
ENST00000583369.5:c.442-4705A>C ENSP00000464321.1:n.442-4705A>C
NM_004252.4:c.679A>C NP_004243.1:p.Lys227Gln
XR_002958087.1:n.898A>C
NM_004252.5:c.679A>C MANE Select NP_004243.1:p.Lys227Gln
Search 100 bp 5'
Search 100 bp 3'