Canonical Allele Identifier: CA400168428

Gene: DLX4

Linked Data

• dbSNP Id: rs1375181217
• gnomAD v2: 17-48051177-C-T
• gnomAD v4: 17-49973813-C-T
• MyVariant Identifiers: chr17:g.48051177C>T (hg19) ; chr17:g.49973813C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49973813C>T , CM000679.2:g.49973813C>T	GRCh38
NC_000017.10:g.48051177C>T , CM000679.1:g.48051177C>T	GRCh37
NC_000017.9:g.45406176C>T	NCBI36
NG_030592.1:g.9616C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706528.1:n.1474C>T
ENST00000240306.5:c.593C>T MANE Select	ENSP00000240306.3:p.Ser198Phe
ENST00000240306.4:c.593C>T	ENSP00000240306.3:p.Ser198Phe
ENST00000411890.3:c.377C>T	ENSP00000410622.2:p.Ser126Phe
ENST00000611342.1:c.*463C>T	ENSP00000480366.1:n.*463C>T
NM_001934.3:c.377C>T	NP_001925.2:p.Ser126Phe
NM_138281.2:c.593C>T	NP_612138.1:p.Ser198Phe
XM_011524459.1:c.377C>T	XP_011522761.1:p.Ser126Phe
XM_017024291.1:c.377C>T	XP_016879780.1:p.Ser126Phe
NM_138281.3:c.593C>T MANE Select	NP_612138.1:p.Ser198Phe
NM_001934.4:c.377C>T	NP_001925.2:p.Ser126Phe