Canonical Allele Identifier: CA627591789
Gene: NHERF1 HGNC NCBI

Linked Data

dbSNP Id: rs1567824625
gnomAD v2: 17-72759478-G-GT
gnomAD v3: 17-74763339-G-GT
gnomAD v4: 17-74763339-G-GT
MyVariant Identifiers: chr17:g.72759478_72759479insT (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74763340dup , CM000679.2:g.74763340dup GRCh38
NC_000017.10:g.72759479dup , CM000679.1:g.72759479dup GRCh37
NC_000017.9:g.70271074dup NCBI36
NG_013022.1:g.19717dup

Transcript Alleles

HGVS Amino-acid change
ENST00000262613.10:c.604-27dup MANE Select ENSP00000262613.5:n.604-27dup
ENST00000262613.9:c.604-27dup ENSP00000262613.5:n.604-27dup
ENST00000413388.2:c.136-27dup ENSP00000464982.1:n.136-27dup
ENST00000578958.1:n.311dup
ENST00000583369.5:c.442-4807dup ENSP00000464321.1:n.442-4807dup
NM_004252.4:c.604-27dup NP_004243.1:n.604-27dup
XR_002958087.1:n.823-27dup
NM_004252.5:c.604-27dup MANE Select NP_004243.1:n.604-27dup
Search 100 bp 5'
Search 100 bp 3'