Canonical Allele Identifier: CA351196982

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238280554A>C (hg19) ; chr2:g.237371911A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237371911A>C , CM000664.2:g.237371911A>C	GRCh38
NC_000002.11:g.238280554A>C , CM000664.1:g.238280554A>C	GRCh37
NC_000002.10:g.237945293A>C	NCBI36
NG_008676.1:g.47297T>G , LRG_473:g.47297T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000353578.9:c.3488T>G	ENSP00000315873.4:p.Ile1163Ser
ENST00000295550.9:c.4106T>G MANE Select	ENSP00000295550.4:p.Ile1369Ser
ENST00000295550.8:c.4106T>G	ENSP00000295550.4:p.Ile1369Ser
ENST00000347401.7:c.2285T>G	ENSP00000315609.4:p.Ile762Ser
ENST00000353578.8:c.3488T>G	ENSP00000315873.4:p.Ile1163Ser
ENST00000392003.6:c.2885T>G	ENSP00000375860.2:p.Ile962Ser
ENST00000392004.7:c.3488T>G	ENSP00000375861.3:p.Ile1163Ser
ENST00000409809.5:c.3488T>G	ENSP00000386844.1:p.Ile1163Ser
ENST00000472056.5:c.2285T>G	ENSP00000418285.1:p.Ile762Ser
NM_004369.3:c.4106T>G , LRG_473t1:c.4106T>G	NP_004360.2:p.Ile1369Ser
NM_057164.4:c.2885T>G	NP_476505.3:p.Ile962Ser
NM_057165.4:c.3488T>G	NP_476506.3:p.Ile1163Ser
NM_057166.4:c.2285T>G	NP_476507.3:p.Ile762Ser
NM_057167.3:c.3488T>G	NP_476508.2:p.Ile1163Ser
XM_005246065.1:c.3506T>G	XP_005246122.1:p.Ile1169Ser
XM_005246066.1:c.2885T>G	XP_005246123.1:p.Ile962Ser
XM_006712253.1:c.4106T>G	XP_006712316.1:p.Ile1369Ser
XM_011510574.1:c.4106T>G	XP_011508876.1:p.Ile1369Ser
XM_011510575.1:c.1700T>G	XP_011508877.1:p.Ile567Ser
XM_017003304.1:c.1700T>G	XP_016858793.1:p.Ile567Ser
XM_024452684.1:c.2885T>G	XP_024308452.1:p.Ile962Ser
NM_004369.4:c.4106T>G MANE Select	NP_004360.2:p.Ile1369Ser
NM_057164.5:c.2885T>G	NP_476505.3:p.Ile962Ser
NM_057165.5:c.3488T>G	NP_476506.3:p.Ile1163Ser
NM_057166.5:c.2285T>G	NP_476507.3:p.Ile762Ser
NM_057167.4:c.3488T>G	NP_476508.2:p.Ile1163Ser