Canonical Allele Identifier: CA501761328
Gene: NHERF1 HGNC NCBI

Linked Data

dbSNP Id: rs2144122719
MyVariant Identifiers: chr17:g.72759508G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763369G>A , CM000679.2:g.74763369G>A GRCh38
NC_000017.10:g.72759508G>A , CM000679.1:g.72759508G>A GRCh37
NC_000017.9:g.70271103G>A NCBI36
NG_013022.1:g.19746G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000262613.10:c.606G>A MANE Select ENSP00000262613.5:p.Val202=
ENST00000262613.9:c.606G>A ENSP00000262613.5:p.Val202=
ENST00000413388.2:c.138G>A ENSP00000464982.1:p.Val46=
ENST00000578958.1:n.340G>A
ENST00000583369.5:c.442-4778G>A ENSP00000464321.1:n.442-4778G>A
NM_004252.4:c.606G>A NP_004243.1:p.Val202=
XR_002958087.1:n.825G>A
NM_004252.5:c.606G>A MANE Select NP_004243.1:p.Val202=