Canonical Allele Identifier: CA8640892

Gene: DLX4

Linked Data

• dbSNP Id: rs750014969
• ExAC: 17:48051248 T / C
• gnomAD v2: 17-48051248-T-C
• MyVariant Identifiers: chr17:g.48051248T>C (hg19) ; chr17:g.49973884T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973884T>C , CM000679.2:g.49973884T>C	GRCh38
NC_000017.10:g.48051248T>C , CM000679.1:g.48051248T>C	GRCh37
NC_000017.9:g.45406247T>C	NCBI36
NG_030592.1:g.9687T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1545T>C
ENST00000240306.5:c.664T>C MANE Select	ENSP00000240306.3:p.Phe222Leu
ENST00000240306.4:c.664T>C	ENSP00000240306.3:p.Phe222Leu
ENST00000411890.3:c.448T>C	ENSP00000410622.2:p.Phe150Leu
ENST00000611342.1:c.*534T>C	ENSP00000480366.1:n.*534T>C
NM_001934.3:c.448T>C	NP_001925.2:p.Phe150Leu
NM_138281.2:c.664T>C	NP_612138.1:p.Phe222Leu
XM_011524459.1:c.448T>C	XP_011522761.1:p.Phe150Leu
XM_017024291.1:c.448T>C	XP_016879780.1:p.Phe150Leu
NM_138281.3:c.664T>C MANE Select	NP_612138.1:p.Phe222Leu
NM_001934.4:c.448T>C	NP_001925.2:p.Phe150Leu