Canonical Allele Identifier: CA351188801

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238243434G>C (hg19) ; chr2:g.237334791G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334791G>C , CM000664.2:g.237334791G>C	GRCh38
NC_000002.11:g.238243434G>C , CM000664.1:g.238243434G>C	GRCh37
NC_000002.10:g.237908173G>C	NCBI36
NG_008676.1:g.84417C>G , LRG_473:g.84417C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.1611-1243C>G
ENST00000353578.9:c.8446C>G	ENSP00000315873.4:p.Leu2816Val
ENST00000682957.1:c.1191C>G
ENST00000295550.9:c.9064C>G MANE Select	ENSP00000295550.4:p.Leu3022Val
ENST00000295550.8:c.9064C>G	ENSP00000295550.4:p.Leu3022Val
ENST00000347401.7:c.7240C>G	ENSP00000315609.4:p.Leu2414Val
ENST00000353578.8:c.8446C>G	ENSP00000315873.4:p.Leu2816Val
ENST00000409809.5:c.8446C>G	ENSP00000386844.1:p.Leu2816Val
ENST00000472056.5:c.7243C>G	ENSP00000418285.1:p.Leu2415Val
ENST00000491769.1:n.5506C>G
NM_004369.3:c.9064C>G , LRG_473t1:c.9064C>G	NP_004360.2:p.Leu3022Val
NM_057166.4:c.7243C>G	NP_476507.3:p.Leu2415Val
NM_057167.3:c.8446C>G	NP_476508.2:p.Leu2816Val
XM_005246065.1:c.8464C>G	XP_005246122.1:p.Leu2822Val
XM_005246066.1:c.7843C>G	XP_005246123.1:p.Leu2615Val
XM_006712253.1:c.8563C>G	XP_006712316.1:p.Leu2855Val
XM_011510574.1:c.9061C>G	XP_011508876.1:p.Leu3021Val
XM_011510575.1:c.6658C>G	XP_011508877.1:p.Leu2220Val
XM_017003304.1:c.6658C>G	XP_016858793.1:p.Leu2220Val
XM_024452684.1:c.7843C>G	XP_024308452.1:p.Leu2615Val
NM_004369.4:c.9064C>G MANE Select	NP_004360.2:p.Leu3022Val
NM_057166.5:c.7243C>G	NP_476507.3:p.Leu2415Val
NM_057167.4:c.8446C>G	NP_476508.2:p.Leu2816Val