Canonical Allele Identifier: CA400940127
Gene: NHERF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.72759582A>C (hg19) chr17:g.74763443A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763443A>C , CM000679.2:g.74763443A>C GRCh38
NC_000017.10:g.72759582A>C , CM000679.1:g.72759582A>C GRCh37
NC_000017.9:g.70271177A>C NCBI36
NG_013022.1:g.19820A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262613.10:c.680A>C MANE Select ENSP00000262613.5:p.Lys227Thr
ENST00000262613.9:c.680A>C ENSP00000262613.5:p.Lys227Thr
ENST00000413388.2:c.212A>C ENSP00000464982.1:p.Lys71Thr
ENST00000578958.1:n.414A>C
ENST00000581356.1:c.16A>C
ENST00000583369.5:c.442-4704A>C ENSP00000464321.1:n.442-4704A>C
NM_004252.4:c.680A>C NP_004243.1:p.Lys227Thr
XR_002958087.1:n.899A>C
NM_004252.5:c.680A>C MANE Select NP_004243.1:p.Lys227Thr
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