Canonical Allele Identifier: CA5563301
Gene: VCL HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.74111911G>A
GRCh37 chr10:g.75871669G>A
gnomAD v2:
10:75871669 G / A
gnomAD v3:
10:74111911 G / A
gnomAD v4:
chr10-74111911-G-A
Joint Max Group AF 0.00009215 (AFR)
Genomes Max Group AF 0.00009569 (AFR)
Exomes Max Group AF 0.00003982 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.74111911G>A , CM000672.2:g.74111911G>A GRCh38
NC_000010.10:g.75871669G>A , CM000672.1:g.75871669G>A GRCh37
NC_000010.9:g.75541675G>A NCBI36
NG_008868.1:g.118798G>A , LRG_383:g.118798G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000211998.10:c.2748G>A MANE Select ENSP00000211998.5:p.Pro916=
ENST00000211998.8:c.2748G>A ENSP00000211998.4:p.Pro916=
ENST00000372755.7:c.2746-2273G>A ENSP00000361841.3:n.2746-2273G>A
ENST00000436396.1:c.1764G>A ENSP00000415489.1:p.Pro588=
ENST00000623461.3:n.5549-2273G>A
ENST00000624354.3:c.*2503G>A ENSP00000485551.1:n.*2503G>A
NM_003373.3:c.2746-2273G>A NP_003364.1:n.2746-2273G>A
NM_014000.2:c.2748G>A , LRG_383t1:c.2748G>A NP_054706.1:p.Pro916=
XM_005270142.1:c.2751G>A XP_005270199.1:p.Pro917=
XM_005270143.1:c.2749-2273G>A XP_005270200.1:n.2749-2273G>A
NM_003373.4:c.2746-2273G>A NP_003364.1:n.2746-2273G>A
NM_014000.3:c.2748G>A MANE Select NP_054706.1:p.Pro916=
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