Canonical Allele Identifier: CA333103

Gene: VCL

Linked Data

• ClinVar Variation Id: 137900
• ClinVar RCV Id: RCV000126281 ; RCV000470598 ; RCV001171117
• dbSNP Id: rs199507346
• ExAC: 10:75871720 G / A
• gnomAD v2: 10-75871720-G-A
• gnomAD v3: 10-74111962-G-A
• gnomAD v4: 10-74111962-G-A
• MyVariant Identifiers: chr10:g.75871720G>A (hg19) ; chr10:g.74111962G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74111962G>A , CM000672.2:g.74111962G>A	GRCh38
NC_000010.10:g.75871720G>A , CM000672.1:g.75871720G>A	GRCh37
NC_000010.9:g.75541726G>A	NCBI36
NG_008868.1:g.118849G>A , LRG_383:g.118849G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000211998.10:c.2799G>A MANE Select	ENSP00000211998.5:p.Ala933=
ENST00000211998.8:c.2799G>A	ENSP00000211998.4:p.Ala933=
ENST00000372755.7:c.2746-2222G>A	ENSP00000361841.3:n.2746-2222G>A
ENST00000436396.1:c.1815G>A	ENSP00000415489.1:p.Ala605=
ENST00000623461.3:n.5549-2222G>A
ENST00000624354.3:c.*2554G>A	ENSP00000485551.1:n.*2554G>A
NM_003373.3:c.2746-2222G>A	NP_003364.1:n.2746-2222G>A
NM_014000.2:c.2799G>A , LRG_383t1:c.2799G>A	NP_054706.1:p.Ala933=
XM_005270142.1:c.2802G>A	XP_005270199.1:p.Ala934=
XM_005270143.1:c.2749-2222G>A	XP_005270200.1:n.2749-2222G>A
NM_003373.4:c.2746-2222G>A	NP_003364.1:n.2746-2222G>A
NM_014000.3:c.2799G>A MANE Select	NP_054706.1:p.Ala933=