Canonical Allele Identifier: CA8640911

Gene: DLX4

Linked Data

• dbSNP Id: rs772784016
• ExAC: 17:48051340 T / C
• gnomAD v2: 17-48051340-T-C
• gnomAD v3: 17-49973976-T-C
• gnomAD v4: 17-49973976-T-C
• MyVariant Identifiers: chr17:g.48051340T>C (hg19) ; chr17:g.49973976T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973976T>C , CM000679.2:g.49973976T>C	GRCh38
NC_000017.10:g.48051340T>C , CM000679.1:g.48051340T>C	GRCh37
NC_000017.9:g.45406339T>C	NCBI36
NG_030592.1:g.9779T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1637T>C
ENST00000240306.5:c.*33T>C MANE Select	ENSP00000240306.3:n.*33T>C
ENST00000240306.4:c.*33T>C	ENSP00000240306.3:n.*33T>C
ENST00000411890.3:c.*33T>C	ENSP00000410622.2:n.*33T>C
ENST00000611342.1:c.*626T>C	ENSP00000480366.1:n.*626T>C
NM_001934.3:c.*33T>C	NP_001925.2:n.*33T>C
NM_138281.2:c.*33T>C	NP_612138.1:n.*33T>C
XM_011524459.1:c.*33T>C	XP_011522761.1:n.*33T>C
XM_017024291.1:c.*33T>C	XP_016879780.1:n.*33T>C
NM_138281.3:c.*33T>C MANE Select	NP_612138.1:n.*33T>C
NM_001934.4:c.*33T>C	NP_001925.2:n.*33T>C