Canonical Allele Identifier: CA8640880
Gene: DLX4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2455526
ClinVar RCV Id: RCV004250234
dbSNP Id: rs150024578
ExAC: 17:48051180 C / T
gnomAD v2: 17-48051180-C-T
gnomAD v3: 17-49973816-C-T
gnomAD v4: 17-49973816-C-T
MyVariant Identifiers: chr17:g.48051180C>T (hg19) chr17:g.49973816C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.49973816C>T , CM000679.2:g.49973816C>T GRCh38
NC_000017.10:g.48051180C>T , CM000679.1:g.48051180C>T GRCh37
NC_000017.9:g.45406179C>T NCBI36
NG_030592.1:g.9619C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000706528.1:n.1477C>T
ENST00000240306.5:c.596C>T MANE Select ENSP00000240306.3:p.Pro199Leu
ENST00000240306.4:c.596C>T ENSP00000240306.3:p.Pro199Leu
ENST00000411890.3:c.380C>T ENSP00000410622.2:p.Pro127Leu
ENST00000611342.1:c.*466C>T ENSP00000480366.1:n.*466C>T
NM_001934.3:c.380C>T NP_001925.2:p.Pro127Leu
NM_138281.2:c.596C>T NP_612138.1:p.Pro199Leu
XM_011524459.1:c.380C>T XP_011522761.1:p.Pro127Leu
XM_017024291.1:c.380C>T XP_016879780.1:p.Pro127Leu
NM_138281.3:c.596C>T MANE Select NP_612138.1:p.Pro199Leu
NM_001934.4:c.380C>T NP_001925.2:p.Pro127Leu
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