Canonical Allele Identifier: CA377272318
Gene: VCL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.74089226G>C , CM000672.2:g.74089226G>C GRCh38
NC_000010.10:g.75848984G>C , CM000672.1:g.75848984G>C GRCh37
NC_000010.9:g.75518990G>C NCBI36
NG_008868.1:g.96113G>C , LRG_383:g.96113G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000211998.10:c.1053G>C MANE Select ENSP00000211998.5:p.Gln351His
ENST00000211998.8:c.1053G>C ENSP00000211998.4:p.Gln351His
ENST00000372755.7:c.1053G>C ENSP00000361841.3:p.Gln351His
ENST00000436396.1:c.69G>C ENSP00000415489.1:p.Gln23His
ENST00000478896.2:n.332-11828G>C
ENST00000623461.3:n.3856G>C
ENST00000624354.3:c.*808G>C ENSP00000485551.1:n.*808G>C
NM_003373.3:c.1053G>C NP_003364.1:p.Gln351His
NM_014000.2:c.1053G>C , LRG_383t1:c.1053G>C NP_054706.1:p.Gln351His
XM_005270142.1:c.1056G>C XP_005270199.1:p.Gln352His
XM_005270143.1:c.1056G>C XP_005270200.1:p.Gln352His
XR_001747501.1:n.89+706C>G
NM_003373.4:c.1053G>C NP_003364.1:p.Gln351His
NM_014000.3:c.1053G>C MANE Select NP_054706.1:p.Gln351His