Canonical Allele Identifier: CA351191219

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238244889C>A (hg19) ; chr2:g.237336246C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336246C>A , CM000664.2:g.237336246C>A	GRCh38
NC_000002.11:g.238244889C>A , CM000664.1:g.238244889C>A	GRCh37
NC_000002.10:g.237909628C>A	NCBI36
NG_008676.1:g.82962G>T , LRG_473:g.82962G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1499G>T
ENST00000353578.9:c.8236G>T	ENSP00000315873.4:p.Val2746Leu
ENST00000682957.1:c.981G>T
ENST00000684508.1:n.1121G>T
ENST00000295550.9:c.8854G>T MANE Select	ENSP00000295550.4:p.Val2952Leu
ENST00000295550.8:c.8854G>T	ENSP00000295550.4:p.Val2952Leu
ENST00000347401.7:c.7030G>T	ENSP00000315609.4:p.Val2344Leu
ENST00000353578.8:c.8236G>T	ENSP00000315873.4:p.Val2746Leu
ENST00000409809.5:c.8236G>T	ENSP00000386844.1:p.Val2746Leu
ENST00000472056.5:c.7033G>T	ENSP00000418285.1:p.Val2345Leu
ENST00000491769.1:n.5296G>T
NM_004369.3:c.8854G>T , LRG_473t1:c.8854G>T	NP_004360.2:p.Val2952Leu
NM_057166.4:c.7033G>T	NP_476507.3:p.Val2345Leu
NM_057167.3:c.8236G>T	NP_476508.2:p.Val2746Leu
XM_005246065.1:c.8254G>T	XP_005246122.1:p.Val2752Leu
XM_005246066.1:c.7633G>T	XP_005246123.1:p.Val2545Leu
XM_006712253.1:c.8353G>T	XP_006712316.1:p.Val2785Leu
XM_011510574.1:c.8851G>T	XP_011508876.1:p.Val2951Leu
XM_011510575.1:c.6448G>T	XP_011508877.1:p.Val2150Leu
XM_017003304.1:c.6448G>T	XP_016858793.1:p.Val2150Leu
XM_024452684.1:c.7633G>T	XP_024308452.1:p.Val2545Leu
NM_004369.4:c.8854G>T MANE Select	NP_004360.2:p.Val2952Leu
NM_057166.5:c.7033G>T	NP_476507.3:p.Val2345Leu
NM_057167.4:c.8236G>T	NP_476508.2:p.Val2746Leu