Canonical Allele Identifier: CA351188764

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238243428C>G (hg19) ; chr2:g.237334785C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334785C>G , CM000664.2:g.237334785C>G	GRCh38
NC_000002.11:g.238243428C>G , CM000664.1:g.238243428C>G	GRCh37
NC_000002.10:g.237908167C>G	NCBI36
NG_008676.1:g.84423G>C , LRG_473:g.84423G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.1611-1237G>C
ENST00000353578.9:c.8452G>C	ENSP00000315873.4:p.Val2818Leu
ENST00000682957.1:c.1197G>C
ENST00000295550.9:c.9070G>C MANE Select	ENSP00000295550.4:p.Val3024Leu
ENST00000295550.8:c.9070G>C	ENSP00000295550.4:p.Val3024Leu
ENST00000347401.7:c.7246G>C	ENSP00000315609.4:p.Val2416Leu
ENST00000353578.8:c.8452G>C	ENSP00000315873.4:p.Val2818Leu
ENST00000409809.5:c.8452G>C	ENSP00000386844.1:p.Val2818Leu
ENST00000472056.5:c.7249G>C	ENSP00000418285.1:p.Val2417Leu
ENST00000491769.1:n.5512G>C
ENST00000493608.1:n.2G>C
NM_004369.3:c.9070G>C , LRG_473t1:c.9070G>C	NP_004360.2:p.Val3024Leu
NM_057166.4:c.7249G>C	NP_476507.3:p.Val2417Leu
NM_057167.3:c.8452G>C	NP_476508.2:p.Val2818Leu
XM_005246065.1:c.8470G>C	XP_005246122.1:p.Val2824Leu
XM_005246066.1:c.7849G>C	XP_005246123.1:p.Val2617Leu
XM_006712253.1:c.8569G>C	XP_006712316.1:p.Val2857Leu
XM_011510574.1:c.9067G>C	XP_011508876.1:p.Val3023Leu
XM_011510575.1:c.6664G>C	XP_011508877.1:p.Val2222Leu
XM_017003304.1:c.6664G>C	XP_016858793.1:p.Val2222Leu
XM_024452684.1:c.7849G>C	XP_024308452.1:p.Val2617Leu
NM_004369.4:c.9070G>C MANE Select	NP_004360.2:p.Val3024Leu
NM_057166.5:c.7249G>C	NP_476507.3:p.Val2417Leu
NM_057167.4:c.8452G>C	NP_476508.2:p.Val2818Leu