Canonical Allele Identifier: CA626475068

Gene: DLX4

Linked Data

• dbSNP Id: rs1371578614
• gnomAD v2: 17-48051661-C-G
• gnomAD v3: 17-49974297-C-G
• gnomAD v4: 17-49974297-C-G
• MyVariant Identifiers: chr17:g.48051661C>G (hg19) ; chr17:g.49974297C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49974297C>G , CM000679.2:g.49974297C>G	GRCh38
NC_000017.10:g.48051661C>G , CM000679.1:g.48051661C>G	GRCh37
NC_000017.9:g.45406660C>G	NCBI36
NG_030592.1:g.10100C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1958C>G
ENST00000240306.5:c.*354C>G MANE Select	ENSP00000240306.3:n.*354C>G
ENST00000240306.4:c.*354C>G	ENSP00000240306.3:n.*354C>G
ENST00000411890.3:c.*354C>G	ENSP00000410622.2:n.*354C>G
ENST00000611342.1:c.*947C>G	ENSP00000480366.1:n.*947C>G
NM_001934.3:c.*354C>G	NP_001925.2:n.*354C>G
NM_138281.2:c.*354C>G	NP_612138.1:n.*354C>G
XM_011524459.1:c.*354C>G	XP_011522761.1:n.*354C>G
XM_017024291.1:c.*354C>G	XP_016879780.1:n.*354C>G
NM_138281.3:c.*354C>G MANE Select	NP_612138.1:n.*354C>G
NM_001934.4:c.*354C>G	NP_001925.2:n.*354C>G