Canonical Allele Identifier: CA391080804

Gene: EXOC3L4

Linked Data

• gnomAD v4: 14-103100224-C-G
• MyVariant Identifiers: chr14:g.103566561C>G (hg19) ; chr14:g.103100224C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.103100224C>G , CM000676.2:g.103100224C>G	GRCh38
NC_000014.8:g.103566561C>G , CM000676.1:g.103566561C>G	GRCh37
NC_000014.7:g.102636314C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000687959.1:c.5C>G	ENSP00000508483.1:p.Pro2Arg
ENST00000688303.1:c.5C>G MANE Select	ENSP00000509130.1:p.Pro2Arg
ENST00000380069.7:c.5C>G	ENSP00000369409.3:p.Pro2Arg
NM_001077594.1:c.5C>G	NP_001071062.1:p.Pro2Arg
XM_011537323.1:c.179C>G	XP_011535625.1:p.Pro60Arg
XM_011537324.1:c.179C>G	XP_011535626.1:p.Pro60Arg
XM_011537325.1:c.5C>G	XP_011535627.1:p.Pro2Arg
XM_011537326.1:c.5C>G	XP_011535628.1:p.Pro2Arg
XM_011537327.1:c.5C>G	XP_011535629.1:p.Pro2Arg
XM_011537328.1:c.5C>G	XP_011535630.1:p.Pro2Arg
XM_011537329.1:c.5C>G	XP_011535631.1:p.Pro2Arg
XM_011537330.1:c.5C>G	XP_011535632.1:p.Pro2Arg
XM_011537331.1:c.5C>G	XP_011535633.1:p.Pro2Arg
XM_011537332.1:c.5C>G	XP_011535634.1:p.Pro2Arg
XM_011537333.1:c.116C>G	XP_011535635.1:p.Pro39Arg
XR_943558.1:n.734C>G
XM_011537323.3:c.179C>G	XP_011535625.1:p.Pro60Arg
XM_011537324.2:c.179C>G	XP_011535626.1:p.Pro60Arg
XM_011537325.2:c.5C>G	XP_011535627.1:p.Pro2Arg
XM_011537327.2:c.5C>G	XP_011535629.1:p.Pro2Arg
XM_011537328.2:c.5C>G	XP_011535630.1:p.Pro2Arg
XM_011537329.2:c.5C>G	XP_011535631.1:p.Pro2Arg
XM_011537330.2:c.5C>G	XP_011535632.1:p.Pro2Arg
XM_011537332.2:c.5C>G	XP_011535634.1:p.Pro2Arg
XM_011537333.2:c.116C>G	XP_011535635.1:p.Pro39Arg
XR_943558.2:n.761C>G
NM_001077594.2:c.5C>G MANE Select	NP_001071062.1:p.Pro2Arg
NM_001394941.1:c.5C>G	NP_001381870.1:p.Pro2Arg
NM_001394942.1:c.5C>G	NP_001381871.1:p.Pro2Arg