Canonical Allele Identifier: CA400940134
Gene: NHERF1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.72759585T>A (hg19) chr17:g.74763446T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763446T>A , CM000679.2:g.74763446T>A GRCh38
NC_000017.10:g.72759585T>A , CM000679.1:g.72759585T>A GRCh37
NC_000017.9:g.70271180T>A NCBI36
NG_013022.1:g.19823T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262613.10:c.683T>A MANE Select ENSP00000262613.5:p.Leu228Gln
ENST00000262613.9:c.683T>A ENSP00000262613.5:p.Leu228Gln
ENST00000413388.2:c.215T>A ENSP00000464982.1:p.Leu72Gln
ENST00000578958.1:n.417T>A
ENST00000581356.1:c.19T>A
ENST00000583369.5:c.442-4701T>A ENSP00000464321.1:n.442-4701T>A
NM_004252.4:c.683T>A NP_004243.1:p.Leu228Gln
XR_002958087.1:n.902T>A
NM_004252.5:c.683T>A MANE Select NP_004243.1:p.Leu228Gln
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