Canonical Allele Identifier: CA594392451

Gene: VCL

Linked Data

• dbSNP Id: rs1471845290
• gnomAD v2: 10-75879263-A-C
• gnomAD v3: 10-74119505-A-C
• gnomAD v4: 10-74119505-A-C
• MyVariant Identifiers: chr10:g.75879263A>C (hg19) ; chr10:g.74119505A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.74119505A>C , CM000672.2:g.74119505A>C	GRCh38
NC_000010.10:g.75879263A>C , CM000672.1:g.75879263A>C	GRCh37
NC_000010.9:g.75549269A>C	NCBI36
NG_008868.1:g.126392A>C , LRG_383:g.126392A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000211998.10:c.*1336A>C MANE Select	ENSP00000211998.5:n.*1336A>C
ENST00000211998.8:c.*1336A>C	ENSP00000211998.4:n.*1336A>C
ENST00000372755.7:c.*1336A>C	ENSP00000361841.3:n.*1336A>C
ENST00000436396.1:c.3757A>C	ENSP00000415489.1:n.3757A>C
ENST00000623461.3:n.7340A>C
NM_003373.3:c.*1336A>C	NP_003364.1:n.*1336A>C
NM_014000.2:c.*1336A>C , LRG_383t1:c.*1336A>C	NP_054706.1:n.*1336A>C
XM_005270142.1:c.*1336A>C	XP_005270199.1:n.*1336A>C
XM_005270143.1:c.*1336A>C	XP_005270200.1:n.*1336A>C
NM_003373.4:c.*1336A>C	NP_003364.1:n.*1336A>C
NM_014000.3:c.*1336A>C MANE Select	NP_054706.1:n.*1336A>C