Canonical Allele Identifier: CA400939972
Gene: NHERF1 HGNC NCBI

Linked Data

gnomAD v4: 17-74763368-T-C
MyVariant Identifiers: chr17:g.72759507T>C (hg19) chr17:g.74763368T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763368T>C , CM000679.2:g.74763368T>C GRCh38
NC_000017.10:g.72759507T>C , CM000679.1:g.72759507T>C GRCh37
NC_000017.9:g.70271102T>C NCBI36
NG_013022.1:g.19745T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000262613.10:c.605T>C MANE Select ENSP00000262613.5:p.Val202Ala
ENST00000262613.9:c.605T>C ENSP00000262613.5:p.Val202Ala
ENST00000413388.2:c.137T>C ENSP00000464982.1:p.Val46Ala
ENST00000578958.1:n.339T>C
ENST00000583369.5:c.442-4779T>C ENSP00000464321.1:n.442-4779T>C
NM_004252.4:c.605T>C NP_004243.1:p.Val202Ala
XR_002958087.1:n.824T>C
NM_004252.5:c.605T>C MANE Select NP_004243.1:p.Val202Ala
Search 100 bp 5'
Search 100 bp 3'