Canonical Allele Identifier: CA2187242
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 285453
dbSNP Id: rs184617787

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237324824G>A , CM000664.2:g.237324824G>A GRCh38
NC_000002.11:g.238233467G>A , CM000664.1:g.238233467G>A GRCh37
NC_000002.10:g.237898206G>A NCBI36
NG_008676.1:g.94384C>T , LRG_473:g.94384C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000347401.8:c.1875-10C>T
ENST00000353578.9:c.8876-10C>T ENSP00000315873.4:n.8876-10C>T
ENST00000682957.1:c.1621-10C>T
ENST00000683348.1:c.360-10C>T ENSP00000508058.1:n.360-10C>T
ENST00000295550.9:c.9494-10C>T MANE Select ENSP00000295550.4:n.9494-10C>T
ENST00000295550.8:c.9494-10C>T ENSP00000295550.4:n.9494-10C>T
ENST00000347401.7:c.7670-10C>T ENSP00000315609.4:n.7670-10C>T
ENST00000353578.8:c.8876-10C>T ENSP00000315873.4:n.8876-10C>T
ENST00000409809.5:c.8876-10C>T ENSP00000386844.1:n.8876-10C>T
ENST00000472056.5:c.7673-10C>T ENSP00000418285.1:n.7673-10C>T
ENST00000473258.1:n.4622-10C>T
ENST00000491769.1:n.5936-10C>T
NM_004369.3:c.9494-10C>T , LRG_473t1:c.9494-10C>T NP_004360.2:n.9494-10C>T
NM_057166.4:c.7673-10C>T NP_476507.3:n.7673-10C>T
NM_057167.3:c.8876-10C>T NP_476508.2:n.8876-10C>T
XM_005246065.1:c.8894-10C>T XP_005246122.1:n.8894-10C>T
XM_005246066.1:c.8273-10C>T XP_005246123.1:n.8273-10C>T
XM_006712253.1:c.8993-10C>T XP_006712316.1:n.8993-10C>T
XM_011510574.1:c.9491-10C>T XP_011508876.1:n.9491-10C>T
XM_011510575.1:c.7088-10C>T XP_011508877.1:n.7088-10C>T
XM_017003304.1:c.7088-10C>T XP_016858793.1:n.7088-10C>T
XM_024452684.1:c.8273-10C>T XP_024308452.1:n.8273-10C>T
NM_004369.4:c.9494-10C>T MANE Select NP_004360.2:n.9494-10C>T
NM_057166.5:c.7673-10C>T NP_476507.3:n.7673-10C>T
NM_057167.4:c.8876-10C>T NP_476508.2:n.8876-10C>T