Canonical Allele Identifier: CA400940138
Gene: NHERF1 HGNC NCBI

Linked Data

gnomAD v4: 17-74763448-C-G
MyVariant Identifiers: chr17:g.72759587C>G (hg19) chr17:g.74763448C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763448C>G , CM000679.2:g.74763448C>G GRCh38
NC_000017.10:g.72759587C>G , CM000679.1:g.72759587C>G GRCh37
NC_000017.9:g.70271182C>G NCBI36
NG_013022.1:g.19825C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000262613.10:c.685C>G MANE Select ENSP00000262613.5:p.Leu229Val
ENST00000262613.9:c.685C>G ENSP00000262613.5:p.Leu229Val
ENST00000413388.2:c.217C>G ENSP00000464982.1:p.Leu73Val
ENST00000578958.1:n.419C>G
ENST00000581356.1:c.21C>G
ENST00000583369.5:c.442-4699C>G ENSP00000464321.1:n.442-4699C>G
NM_004252.4:c.685C>G NP_004243.1:p.Leu229Val
XR_002958087.1:n.904C>G
NM_004252.5:c.685C>G MANE Select NP_004243.1:p.Leu229Val
Search 100 bp 5'
Search 100 bp 3'