Canonical Allele Identifier: CA400168348

Gene: DLX4

Linked Data

• ClinVar Variation Id: 2616668
• ClinVar RCV Id: RCV004357007
• dbSNP Id: rs1190153830
• gnomAD v2: 17-48051162-C-T
• gnomAD v4: 17-49973798-C-T
• MyVariant Identifiers: chr17:g.48051162C>T (hg19) ; chr17:g.49973798C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973798C>T , CM000679.2:g.49973798C>T	GRCh38
NC_000017.10:g.48051162C>T , CM000679.1:g.48051162C>T	GRCh37
NC_000017.9:g.45406161C>T	NCBI36
NG_030592.1:g.9601C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1459C>T
ENST00000240306.5:c.578C>T MANE Select	ENSP00000240306.3:p.Ser193Phe
ENST00000240306.4:c.578C>T	ENSP00000240306.3:p.Ser193Phe
ENST00000411890.3:c.362C>T	ENSP00000410622.2:p.Ser121Phe
ENST00000611342.1:c.*448C>T	ENSP00000480366.1:n.*448C>T
NM_001934.3:c.362C>T	NP_001925.2:p.Ser121Phe
NM_138281.2:c.578C>T	NP_612138.1:p.Ser193Phe
XM_011524459.1:c.362C>T	XP_011522761.1:p.Ser121Phe
XM_017024291.1:c.362C>T	XP_016879780.1:p.Ser121Phe
NM_138281.3:c.578C>T MANE Select	NP_612138.1:p.Ser193Phe
NM_001934.4:c.362C>T	NP_001925.2:p.Ser121Phe