Canonical Allele Identifier: CA644175155

Gene: ELF4

Linked Data

• dbSNP Id: rs1202504663
• gnomAD v2: X-129199718-G-T
• gnomAD v3: X-130065743-G-T
• gnomAD v4: X-130065743-G-T
• MyVariant Identifiers: chrX:g.129199718G>T (hg19) ; chrX:g.130065743G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130065743G>T , CM000685.2:g.130065743G>T	GRCh38
NC_000023.10:g.129199718G>T , CM000685.1:g.129199718G>T	GRCh37
NC_000023.9:g.129027399G>T	NCBI36
NG_016388.1:g.49971C>A , LRG_335:g.49971C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308167.10:c.*978C>A MANE Select	ENSP00000311280.6:n.*978C>A
ENST00000308167.9:c.*978C>A	ENSP00000311280.5:n.*978C>A
ENST00000335997.11:c.*978C>A	ENSP00000338608.7:n.*978C>A
ENST00000615377.4:c.*978C>A	ENSP00000478297.1:n.*978C>A
NM_001127197.1:c.*978C>A	NP_001120669.1:n.*978C>A
NM_001421.3:c.*978C>A , LRG_335t1:c.*978C>A	NP_001412.1:n.*978C>A
XM_005262389.2:c.*978C>A	XP_005262446.1:n.*978C>A
XM_011531307.1:c.*978C>A	XP_011529609.1:n.*978C>A
XM_011531308.1:c.*978C>A	XP_011529610.1:n.*978C>A
XM_005262389.3:c.*978C>A	XP_005262446.1:n.*978C>A
XM_011531307.3:c.*978C>A	XP_011529609.1:n.*978C>A
XM_011531308.3:c.*978C>A	XP_011529610.1:n.*978C>A
NM_001127197.2:c.*978C>A	NP_001120669.1:n.*978C>A
NM_001421.4:c.*978C>A MANE Select	NP_001412.1:n.*978C>A