Canonical Allele Identifier: CA804710213

Gene: ANKHD1 ANKHD1-EIF4EBP3

Linked Data

• dbSNP Id: rs1439327778
• gnomAD v3: 5-140482839-G-A
• gnomAD v4: 5-140482839-G-A
• MyVariant Identifiers: chr5:g.139862424G>A (hg19) ; chr5:g.140482839G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.140482839G>A , CM000667.2:g.140482839G>A	GRCh38
NC_000005.9:g.139862424G>A , CM000667.1:g.139862424G>A	GRCh37
NC_000005.8:g.139842608G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360839.7:c.1870+172G>A (ANKHD1) MANE Select	ENSP00000354085.2:n.1870+172G>A
ENST00000246149.10:c.354+172G>A (ANKHD1)
ENST00000297183.10:c.-2982+172G>A (ANKHD1)	ENSP00000297183.7:n.-2982+172G>A
ENST00000360839.6:c.1870+172G>A (ANKHD1)	ENSP00000354085.2:n.1870+172G>A
ENST00000412116.5:c.88+172G>A (ANKHD1)	ENSP00000405602.1:n.88+172G>A
ENST00000421134.5:c.1927+172G>A (ANKHD1)	ENSP00000394489.1:n.1927+172G>A
ENST00000532219.5:c.1870+172G>A (ANKHD1-EIF4EBP3)	ENSP00000432016.1:n.1870+172G>A
NM_017747.2:c.1870+172G>A (ANKHD1)	NP_060217.1:n.1870+172G>A
NM_020690.5:c.1870+172G>A (ANKHD1-EIF4EBP3)	NP_065741.3:n.1870+172G>A
NM_017747.3:c.1870+172G>A (ANKHD1) MANE Select	NP_060217.1:n.1870+172G>A
NM_020690.6:c.1870+172G>A (ANKHD1-EIF4EBP3)	NP_065741.3:n.1870+172G>A