Canonical Allele Identifier: CA351201703

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238253033A>T (hg19) ; chr2:g.237344390A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344390A>T , CM000664.2:g.237344390A>T	GRCh38
NC_000002.11:g.238253033A>T , CM000664.1:g.238253033A>T	GRCh37
NC_000002.10:g.237917772A>T	NCBI36
NG_008676.1:g.74818T>A , LRG_473:g.74818T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.273T>A
ENST00000353578.9:c.7010T>A	ENSP00000315873.4:p.Leu2337His
ENST00000295550.9:c.7628T>A MANE Select	ENSP00000295550.4:p.Leu2543His
ENST00000295550.8:c.7628T>A	ENSP00000295550.4:p.Leu2543His
ENST00000347401.7:c.5804T>A	ENSP00000315609.4:p.Leu1935His
ENST00000353578.8:c.7010T>A	ENSP00000315873.4:p.Leu2337His
ENST00000409809.5:c.7010T>A	ENSP00000386844.1:p.Leu2337His
ENST00000472056.5:c.5807T>A	ENSP00000418285.1:p.Leu1936His
ENST00000491769.1:n.1882T>A
NM_004369.3:c.7628T>A , LRG_473t1:c.7628T>A	NP_004360.2:p.Leu2543His
NM_057166.4:c.5807T>A	NP_476507.3:p.Leu1936His
NM_057167.3:c.7010T>A	NP_476508.2:p.Leu2337His
XM_005246065.1:c.7028T>A	XP_005246122.1:p.Leu2343His
XM_005246066.1:c.6407T>A	XP_005246123.1:p.Leu2136His
XM_006712253.1:c.7127T>A	XP_006712316.1:p.Leu2376His
XM_011510574.1:c.7625T>A	XP_011508876.1:p.Leu2542His
XM_011510575.1:c.5222T>A	XP_011508877.1:p.Leu1741His
XM_017003304.1:c.5222T>A	XP_016858793.1:p.Leu1741His
XM_024452684.1:c.6407T>A	XP_024308452.1:p.Leu2136His
NM_004369.4:c.7628T>A MANE Select	NP_004360.2:p.Leu2543His
NM_057166.5:c.5807T>A	NP_476507.3:p.Leu1936His
NM_057167.4:c.7010T>A	NP_476508.2:p.Leu2337His