Canonical Allele Identifier: CA67830838

Gene: COL6A3

Linked Data

• dbSNP Id: rs141016523
• gnomAD v2: 2-238245253-A-G
• gnomAD v3: 2-237336610-A-G
• gnomAD v4: 2-237336610-A-G
• MyVariant Identifiers: chr2:g.238245253A>G (hg19) ; chr2:g.237336610A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336610A>G , CM000664.2:g.237336610A>G	GRCh38
NC_000002.11:g.238245253A>G , CM000664.1:g.238245253A>G	GRCh37
NC_000002.10:g.237909992A>G	NCBI36
NG_008676.1:g.82598T>C , LRG_473:g.82598T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1213-78T>C
ENST00000353578.9:c.7950-78T>C	ENSP00000315873.4:n.7950-78T>C
ENST00000682957.1:c.695-78T>C
ENST00000684508.1:n.835-78T>C
ENST00000295550.9:c.8568-78T>C MANE Select	ENSP00000295550.4:n.8568-78T>C
ENST00000295550.8:c.8568-78T>C	ENSP00000295550.4:n.8568-78T>C
ENST00000347401.7:c.6744-78T>C	ENSP00000315609.4:n.6744-78T>C
ENST00000353578.8:c.7950-78T>C	ENSP00000315873.4:n.7950-78T>C
ENST00000409809.5:c.7950-78T>C	ENSP00000386844.1:n.7950-78T>C
ENST00000472056.5:c.6747-78T>C	ENSP00000418285.1:n.6747-78T>C
ENST00000491769.1:n.5010-78T>C
NM_004369.3:c.8568-78T>C , LRG_473t1:c.8568-78T>C	NP_004360.2:n.8568-78T>C
NM_057166.4:c.6747-78T>C	NP_476507.3:n.6747-78T>C
NM_057167.3:c.7950-78T>C	NP_476508.2:n.7950-78T>C
XM_005246065.1:c.7968-78T>C	XP_005246122.1:n.7968-78T>C
XM_005246066.1:c.7347-78T>C	XP_005246123.1:n.7347-78T>C
XM_006712253.1:c.8067-78T>C	XP_006712316.1:n.8067-78T>C
XM_011510574.1:c.8565-78T>C	XP_011508876.1:n.8565-78T>C
XM_011510575.1:c.6162-78T>C	XP_011508877.1:n.6162-78T>C
XM_017003304.1:c.6162-78T>C	XP_016858793.1:n.6162-78T>C
XM_024452684.1:c.7347-78T>C	XP_024308452.1:n.7347-78T>C
NM_004369.4:c.8568-78T>C MANE Select	NP_004360.2:n.8568-78T>C
NM_057166.5:c.6747-78T>C	NP_476507.3:n.6747-78T>C
NM_057167.4:c.7950-78T>C	NP_476508.2:n.7950-78T>C