Canonical Allele Identifier: CA2675584048

Gene: ANKHD1 ANKHD1-EIF4EBP3

Linked Data

• gnomAD v4: 5-140482790-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140482790G>T , CM000667.2:g.140482790G>T	GRCh38
NC_000005.9:g.139862375G>T , CM000667.1:g.139862375G>T	GRCh37
NC_000005.8:g.139842559G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360839.7:c.1870+123G>T (ANKHD1) MANE Select	ENSP00000354085.2:n.1870+123G>T
ENST00000246149.10:c.354+123G>T (ANKHD1)
ENST00000297183.10:c.-2982+123G>T (ANKHD1)	ENSP00000297183.7:n.-2982+123G>T
ENST00000360839.6:c.1870+123G>T (ANKHD1)	ENSP00000354085.2:n.1870+123G>T
ENST00000412116.5:c.88+123G>T (ANKHD1)	ENSP00000405602.1:n.88+123G>T
ENST00000421134.5:c.1927+123G>T (ANKHD1)	ENSP00000394489.1:n.1927+123G>T
ENST00000532219.5:c.1870+123G>T (ANKHD1-EIF4EBP3)	ENSP00000432016.1:n.1870+123G>T
NM_017747.2:c.1870+123G>T (ANKHD1)	NP_060217.1:n.1870+123G>T
NM_020690.5:c.1870+123G>T (ANKHD1-EIF4EBP3)	NP_065741.3:n.1870+123G>T
NM_017747.3:c.1870+123G>T (ANKHD1) MANE Select	NP_060217.1:n.1870+123G>T
NM_020690.6:c.1870+123G>T (ANKHD1-EIF4EBP3)	NP_065741.3:n.1870+123G>T