Canonical Allele Identifier: CA8640917

Gene: DLX4

Linked Data

• dbSNP Id: rs767321711
• ExAC: 17:48051358 C / A
• gnomAD v4: 17-49973994-C-A
• MyVariant Identifiers: chr17:g.48051358C>A (hg19) ; chr17:g.49973994C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973994C>A , CM000679.2:g.49973994C>A	GRCh38
NC_000017.10:g.48051358C>A , CM000679.1:g.48051358C>A	GRCh37
NC_000017.9:g.45406357C>A	NCBI36
NG_030592.1:g.9797C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1655C>A
ENST00000240306.5:c.*51C>A MANE Select	ENSP00000240306.3:n.*51C>A
ENST00000240306.4:c.*51C>A	ENSP00000240306.3:n.*51C>A
ENST00000411890.3:c.*51C>A	ENSP00000410622.2:n.*51C>A
ENST00000611342.1:c.*644C>A	ENSP00000480366.1:n.*644C>A
NM_001934.3:c.*51C>A	NP_001925.2:n.*51C>A
NM_138281.2:c.*51C>A	NP_612138.1:n.*51C>A
XM_011524459.1:c.*51C>A	XP_011522761.1:n.*51C>A
XM_017024291.1:c.*51C>A	XP_016879780.1:n.*51C>A
NM_138281.3:c.*51C>A MANE Select	NP_612138.1:n.*51C>A
NM_001934.4:c.*51C>A	NP_001925.2:n.*51C>A