Canonical Allele Identifier: CA351217543

Gene: COL6A3

Linked Data

• dbSNP Id: rs1448160267
• gnomAD v3: 2-237381223-T-G
• gnomAD v4: 2-237381223-T-G
• MyVariant Identifiers: chr2:g.238289866T>G (hg19) ; chr2:g.237381223T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237381223T>G , CM000664.2:g.237381223T>G	GRCh38
NC_000002.11:g.238289866T>G , CM000664.1:g.238289866T>G	GRCh37
NC_000002.10:g.237954605T>G	NCBI36
NG_008676.1:g.37985A>C , LRG_473:g.37985A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.971A>C	ENSP00000315873.4:p.Asp324Ala
ENST00000295550.9:c.1589A>C MANE Select	ENSP00000295550.4:p.Asp530Ala
ENST00000295550.8:c.1589A>C	ENSP00000295550.4:p.Asp530Ala
ENST00000347401.7:c.368A>C	ENSP00000315609.4:p.Asp123Ala
ENST00000353578.8:c.971A>C	ENSP00000315873.4:p.Asp324Ala
ENST00000392003.6:c.368A>C	ENSP00000375860.2:p.Asp123Ala
ENST00000392004.7:c.971A>C	ENSP00000375861.3:p.Asp324Ala
ENST00000409809.5:c.971A>C	ENSP00000386844.1:p.Asp324Ala
ENST00000433762.1:c.1589A>C	ENSP00000389539.1:p.Asp530Ala
ENST00000472056.5:c.368A>C	ENSP00000418285.1:p.Asp123Ala
NM_004369.3:c.1589A>C , LRG_473t1:c.1589A>C	NP_004360.2:p.Asp530Ala
NM_057164.4:c.368A>C	NP_476505.3:p.Asp123Ala
NM_057165.4:c.971A>C	NP_476506.3:p.Asp324Ala
NM_057166.4:c.368A>C	NP_476507.3:p.Asp123Ala
NM_057167.3:c.971A>C	NP_476508.2:p.Asp324Ala
XM_005246065.1:c.1589A>C	XP_005246122.1:p.Asp530Ala
XM_005246066.1:c.368A>C	XP_005246123.1:p.Asp123Ala
XM_006712253.1:c.1589A>C	XP_006712316.1:p.Asp530Ala
XM_011510574.1:c.1589A>C	XP_011508876.1:p.Asp530Ala
XM_011510575.1:c.92-3879A>C	XP_011508877.1:n.92-3879A>C
XM_017003304.1:c.92-3879A>C	XP_016858793.1:n.92-3879A>C
XM_024452684.1:c.368A>C	XP_024308452.1:p.Asp123Ala
NM_004369.4:c.1589A>C MANE Select	NP_004360.2:p.Asp530Ala
NM_057164.5:c.368A>C	NP_476505.3:p.Asp123Ala
NM_057165.5:c.971A>C	NP_476506.3:p.Asp324Ala
NM_057166.5:c.368A>C	NP_476507.3:p.Asp123Ala
NM_057167.4:c.971A>C	NP_476508.2:p.Asp324Ala