Canonical Allele Identifier: CA391081701

Gene: EXOC3L4

Linked Data

• dbSNP Id: rs1266602751
• gnomAD v2: 14-103566804-T-C
• gnomAD v4: 14-103100467-T-C
• MyVariant Identifiers: chr14:g.103566804T>C (hg19) ; chr14:g.103100467T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.103100467T>C , CM000676.2:g.103100467T>C	GRCh38
NC_000014.8:g.103566804T>C , CM000676.1:g.103566804T>C	GRCh37
NC_000014.7:g.102636557T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687959.1:c.248T>C	ENSP00000508483.1:p.Leu83Pro
ENST00000688303.1:c.248T>C MANE Select	ENSP00000509130.1:p.Leu83Pro
ENST00000380069.7:c.248T>C	ENSP00000369409.3:p.Leu83Pro
ENST00000559116.1:c.140T>C	ENSP00000454163.1:p.Leu47Pro
NM_001077594.1:c.248T>C	NP_001071062.1:p.Leu83Pro
XM_011537323.1:c.422T>C	XP_011535625.1:p.Leu141Pro
XM_011537324.1:c.422T>C	XP_011535626.1:p.Leu141Pro
XM_011537325.1:c.248T>C	XP_011535627.1:p.Leu83Pro
XM_011537326.1:c.248T>C	XP_011535628.1:p.Leu83Pro
XM_011537327.1:c.248T>C	XP_011535629.1:p.Leu83Pro
XM_011537328.1:c.248T>C	XP_011535630.1:p.Leu83Pro
XM_011537329.1:c.248T>C	XP_011535631.1:p.Leu83Pro
XM_011537330.1:c.248T>C	XP_011535632.1:p.Leu83Pro
XM_011537331.1:c.248T>C	XP_011535633.1:p.Leu83Pro
XM_011537332.1:c.248T>C	XP_011535634.1:p.Leu83Pro
XM_011537333.1:c.359T>C	XP_011535635.1:p.Leu120Pro
XR_943558.1:n.977T>C
XM_011537323.3:c.422T>C	XP_011535625.1:p.Leu141Pro
XM_011537324.2:c.422T>C	XP_011535626.1:p.Leu141Pro
XM_011537325.2:c.248T>C	XP_011535627.1:p.Leu83Pro
XM_011537327.2:c.248T>C	XP_011535629.1:p.Leu83Pro
XM_011537328.2:c.248T>C	XP_011535630.1:p.Leu83Pro
XM_011537329.2:c.248T>C	XP_011535631.1:p.Leu83Pro
XM_011537330.2:c.248T>C	XP_011535632.1:p.Leu83Pro
XM_011537332.2:c.248T>C	XP_011535634.1:p.Leu83Pro
XM_011537333.2:c.359T>C	XP_011535635.1:p.Leu120Pro
XR_943558.2:n.1004T>C
NM_001077594.2:c.248T>C MANE Select	NP_001071062.1:p.Leu83Pro
NM_001394941.1:c.248T>C	NP_001381870.1:p.Leu83Pro
NM_001394942.1:c.248T>C	NP_001381871.1:p.Leu83Pro