Canonical Allele Identifier: CA400168915

Gene: DLX4

Linked Data

• dbSNP Id: rs1247791075
• COSMIC: COSM1250205
• MyVariant Identifiers: chr17:g.48051301G>T (hg19) ; chr17:g.49973937G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973937G>T , CM000679.2:g.49973937G>T	GRCh38
NC_000017.10:g.48051301G>T , CM000679.1:g.48051301G>T	GRCh37
NC_000017.9:g.45406300G>T	NCBI36
NG_030592.1:g.9740G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1598G>T
ENST00000240306.5:c.717G>T MANE Select	ENSP00000240306.3:p.Met239Ile
ENST00000240306.4:c.717G>T	ENSP00000240306.3:p.Met239Ile
ENST00000411890.3:c.501G>T	ENSP00000410622.2:p.Met167Ile
ENST00000611342.1:c.*587G>T	ENSP00000480366.1:n.*587G>T
NM_001934.3:c.501G>T	NP_001925.2:p.Met167Ile
NM_138281.2:c.717G>T	NP_612138.1:p.Met239Ile
XM_011524459.1:c.501G>T	XP_011522761.1:p.Met167Ile
XM_017024291.1:c.501G>T	XP_016879780.1:p.Met167Ile
NM_138281.3:c.717G>T MANE Select	NP_612138.1:p.Met239Ile
NM_001934.4:c.501G>T	NP_001925.2:p.Met167Ile