Canonical Allele Identifier: CA179921
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 166936
dbSNP Id: rs112928650

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237336365G>A , CM000664.2:g.237336365G>A GRCh38
NC_000002.11:g.238245008G>A , CM000664.1:g.238245008G>A GRCh37
NC_000002.10:g.237909747G>A NCBI36
NG_008676.1:g.82843C>T , LRG_473:g.82843C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000347401.8:c.1380C>T
ENST00000353578.9:c.8117C>T ENSP00000315873.4:p.Pro2706Leu
ENST00000682957.1:c.862C>T
ENST00000684508.1:n.1002C>T
ENST00000295550.9:c.8735C>T MANE Select ENSP00000295550.4:p.Pro2912Leu
ENST00000295550.8:c.8735C>T ENSP00000295550.4:p.Pro2912Leu
ENST00000347401.7:c.6911C>T ENSP00000315609.4:p.Pro2304Leu
ENST00000353578.8:c.8117C>T ENSP00000315873.4:p.Pro2706Leu
ENST00000409809.5:c.8117C>T ENSP00000386844.1:p.Pro2706Leu
ENST00000472056.5:c.6914C>T ENSP00000418285.1:p.Pro2305Leu
ENST00000491769.1:n.5177C>T
NM_004369.3:c.8735C>T , LRG_473t1:c.8735C>T NP_004360.2:p.Pro2912Leu
NM_057166.4:c.6914C>T NP_476507.3:p.Pro2305Leu
NM_057167.3:c.8117C>T NP_476508.2:p.Pro2706Leu
XM_005246065.1:c.8135C>T XP_005246122.1:p.Pro2712Leu
XM_005246066.1:c.7514C>T XP_005246123.1:p.Pro2505Leu
XM_006712253.1:c.8234C>T XP_006712316.1:p.Pro2745Leu
XM_011510574.1:c.8732C>T XP_011508876.1:p.Pro2911Leu
XM_011510575.1:c.6329C>T XP_011508877.1:p.Pro2110Leu
XM_017003304.1:c.6329C>T XP_016858793.1:p.Pro2110Leu
XM_024452684.1:c.7514C>T XP_024308452.1:p.Pro2505Leu
NM_004369.4:c.8735C>T MANE Select NP_004360.2:p.Pro2912Leu
NM_057166.5:c.6914C>T NP_476507.3:p.Pro2305Leu
NM_057167.4:c.8117C>T NP_476508.2:p.Pro2706Leu