Canonical Allele Identifier: CA500989104

Gene: DLX4

Linked Data

• dbSNP Id: rs1412749600
• gnomAD v3: 17-49973839-C-T
• gnomAD v4: 17-49973839-C-T
• MyVariant Identifiers: chr17:g.48051203C>T (hg19) ; chr17:g.49973839C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973839C>T , CM000679.2:g.49973839C>T	GRCh38
NC_000017.10:g.48051203C>T , CM000679.1:g.48051203C>T	GRCh37
NC_000017.9:g.45406202C>T	NCBI36
NG_030592.1:g.9642C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1500C>T
ENST00000240306.5:c.619C>T MANE Select	ENSP00000240306.3:p.Leu207=
ENST00000240306.4:c.619C>T	ENSP00000240306.3:p.Leu207=
ENST00000411890.3:c.403C>T	ENSP00000410622.2:p.Leu135=
ENST00000611342.1:c.*489C>T	ENSP00000480366.1:n.*489C>T
NM_001934.3:c.403C>T	NP_001925.2:p.Leu135=
NM_138281.2:c.619C>T	NP_612138.1:p.Leu207=
XM_011524459.1:c.403C>T	XP_011522761.1:p.Leu135=
XM_017024291.1:c.403C>T	XP_016879780.1:p.Leu135=
NM_138281.3:c.619C>T MANE Select	NP_612138.1:p.Leu207=
NM_001934.4:c.403C>T	NP_001925.2:p.Leu135=