Canonical Allele Identifier: CA335107336

Gene: ELF4

Linked Data

• dbSNP Id: rs983183160
• gnomAD v4: X-130065739-G-A
• MyVariant Identifiers: chrX:g.129199714G>A (hg19) ; chrX:g.130065739G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.130065739G>A , CM000685.2:g.130065739G>A	GRCh38
NC_000023.10:g.129199714G>A , CM000685.1:g.129199714G>A	GRCh37
NC_000023.9:g.129027395G>A	NCBI36
NG_016388.1:g.49975C>T , LRG_335:g.49975C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308167.10:c.*982C>T MANE Select	ENSP00000311280.6:n.*982C>T
ENST00000308167.9:c.*982C>T	ENSP00000311280.5:n.*982C>T
ENST00000335997.11:c.*982C>T	ENSP00000338608.7:n.*982C>T
ENST00000615377.4:c.*982C>T	ENSP00000478297.1:n.*982C>T
NM_001127197.1:c.*982C>T	NP_001120669.1:n.*982C>T
NM_001421.3:c.*982C>T , LRG_335t1:c.*982C>T	NP_001412.1:n.*982C>T
XM_005262389.2:c.*982C>T	XP_005262446.1:n.*982C>T
XM_011531307.1:c.*982C>T	XP_011529609.1:n.*982C>T
XM_011531308.1:c.*982C>T	XP_011529610.1:n.*982C>T
XM_005262389.3:c.*982C>T	XP_005262446.1:n.*982C>T
XM_011531307.3:c.*982C>T	XP_011529609.1:n.*982C>T
XM_011531308.3:c.*982C>T	XP_011529610.1:n.*982C>T
NM_001127197.2:c.*982C>T	NP_001120669.1:n.*982C>T
NM_001421.4:c.*982C>T MANE Select	NP_001412.1:n.*982C>T