Canonical Allele Identifier: CA7361828

Gene: EXOC3L4

Linked Data

• dbSNP Id: rs189674968
• ExAC: 14:103566788 C / T
• gnomAD v2: 14-103566788-C-T
• gnomAD v3: 14-103100451-C-T
• gnomAD v4: 14-103100451-C-T
• MyVariant Identifiers: chr14:g.103566788C>T (hg19) ; chr14:g.103100451C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.103100451C>T , CM000676.2:g.103100451C>T	GRCh38
NC_000014.8:g.103566788C>T , CM000676.1:g.103566788C>T	GRCh37
NC_000014.7:g.102636541C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000687959.1:c.232C>T	ENSP00000508483.1:p.Arg78Ter
ENST00000688303.1:c.232C>T MANE Select	ENSP00000509130.1:p.Arg78Ter
ENST00000380069.7:c.232C>T	ENSP00000369409.3:p.Arg78Ter
ENST00000559116.1:c.124C>T	ENSP00000454163.1:p.Arg42Ter
NM_001077594.1:c.232C>T	NP_001071062.1:p.Arg78Ter
XM_011537323.1:c.406C>T	XP_011535625.1:p.Arg136Ter
XM_011537324.1:c.406C>T	XP_011535626.1:p.Arg136Ter
XM_011537325.1:c.232C>T	XP_011535627.1:p.Arg78Ter
XM_011537326.1:c.232C>T	XP_011535628.1:p.Arg78Ter
XM_011537327.1:c.232C>T	XP_011535629.1:p.Arg78Ter
XM_011537328.1:c.232C>T	XP_011535630.1:p.Arg78Ter
XM_011537329.1:c.232C>T	XP_011535631.1:p.Arg78Ter
XM_011537330.1:c.232C>T	XP_011535632.1:p.Arg78Ter
XM_011537331.1:c.232C>T	XP_011535633.1:p.Arg78Ter
XM_011537332.1:c.232C>T	XP_011535634.1:p.Arg78Ter
XM_011537333.1:c.343C>T	XP_011535635.1:p.Arg115Ter
XR_943558.1:n.961C>T
XM_011537323.3:c.406C>T	XP_011535625.1:p.Arg136Ter
XM_011537324.2:c.406C>T	XP_011535626.1:p.Arg136Ter
XM_011537325.2:c.232C>T	XP_011535627.1:p.Arg78Ter
XM_011537327.2:c.232C>T	XP_011535629.1:p.Arg78Ter
XM_011537328.2:c.232C>T	XP_011535630.1:p.Arg78Ter
XM_011537329.2:c.232C>T	XP_011535631.1:p.Arg78Ter
XM_011537330.2:c.232C>T	XP_011535632.1:p.Arg78Ter
XM_011537332.2:c.232C>T	XP_011535634.1:p.Arg78Ter
XM_011537333.2:c.343C>T	XP_011535635.1:p.Arg115Ter
XR_943558.2:n.988C>T
NM_001077594.2:c.232C>T MANE Select	NP_001071062.1:p.Arg78Ter
NM_001394941.1:c.232C>T	NP_001381870.1:p.Arg78Ter
NM_001394942.1:c.232C>T	NP_001381871.1:p.Arg78Ter