Canonical Allele Identifier: CA8750660

Gene: NHERF1

Linked Data

• dbSNP Id: rs374184973
• ExAC: 17:72759478 G / T
• gnomAD v2: 17-72759478-G-T
• gnomAD v4: 17-74763339-G-T
• MyVariant Identifiers: chr17:g.72759478G>T (hg19) ; chr17:g.74763339G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74763339G>T , CM000679.2:g.74763339G>T	GRCh38
NC_000017.10:g.72759478G>T , CM000679.1:g.72759478G>T	GRCh37
NC_000017.9:g.70271073G>T	NCBI36
NG_013022.1:g.19716G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262613.10:c.604-28G>T MANE Select	ENSP00000262613.5:n.604-28G>T
ENST00000262613.9:c.604-28G>T	ENSP00000262613.5:n.604-28G>T
ENST00000413388.2:c.136-28G>T	ENSP00000464982.1:n.136-28G>T
ENST00000578958.1:n.310G>T
ENST00000583369.5:c.442-4808G>T	ENSP00000464321.1:n.442-4808G>T
NM_004252.4:c.604-28G>T	NP_004243.1:n.604-28G>T
XR_002958087.1:n.823-28G>T
NM_004252.5:c.604-28G>T MANE Select	NP_004243.1:n.604-28G>T