Canonical Allele Identifier: CA501761425
Gene: NHERF1 HGNC NCBI

Linked Data

dbSNP Id: rs2034973469
MyVariant Identifiers: chr17:g.72759643T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763504T>G , CM000679.2:g.74763504T>G GRCh38
NC_000017.10:g.72759643T>G , CM000679.1:g.72759643T>G GRCh37
NC_000017.9:g.70271238T>G NCBI36
NG_013022.1:g.19881T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000262613.10:c.741T>G MANE Select ENSP00000262613.5:p.Ser247=
ENST00000262613.9:c.741T>G ENSP00000262613.5:p.Ser247=
ENST00000413388.2:c.273T>G ENSP00000464982.1:p.Ser91=
ENST00000578958.1:n.475T>G
ENST00000581356.1:c.77T>G
ENST00000583369.5:c.442-4643T>G ENSP00000464321.1:n.442-4643T>G
NM_004252.4:c.741T>G NP_004243.1:p.Ser247=
XR_002958087.1:n.960T>G
NM_004252.5:c.741T>G MANE Select NP_004243.1:p.Ser247=
Search 100 bp 5'
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