Canonical Allele Identifier: CA351188775

Gene: COL6A3

Linked Data

• dbSNP Id: rs1700446756
• COSMIC: COSM230515
• MyVariant Identifiers: chr2:g.238243430G>A (hg19) ; chr2:g.237334787G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334787G>A , CM000664.2:g.237334787G>A	GRCh38
NC_000002.11:g.238243430G>A , CM000664.1:g.238243430G>A	GRCh37
NC_000002.10:g.237908169G>A	NCBI36
NG_008676.1:g.84421C>T , LRG_473:g.84421C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.1611-1239C>T
ENST00000353578.9:c.8450C>T	ENSP00000315873.4:p.Thr2817Ile
ENST00000682957.1:c.1195C>T
ENST00000295550.9:c.9068C>T MANE Select	ENSP00000295550.4:p.Thr3023Ile
ENST00000295550.8:c.9068C>T	ENSP00000295550.4:p.Thr3023Ile
ENST00000347401.7:c.7244C>T	ENSP00000315609.4:p.Thr2415Ile
ENST00000353578.8:c.8450C>T	ENSP00000315873.4:p.Thr2817Ile
ENST00000409809.5:c.8450C>T	ENSP00000386844.1:p.Thr2817Ile
ENST00000472056.5:c.7247C>T	ENSP00000418285.1:p.Thr2416Ile
ENST00000491769.1:n.5510C>T
NM_004369.3:c.9068C>T , LRG_473t1:c.9068C>T	NP_004360.2:p.Thr3023Ile
NM_057166.4:c.7247C>T	NP_476507.3:p.Thr2416Ile
NM_057167.3:c.8450C>T	NP_476508.2:p.Thr2817Ile
XM_005246065.1:c.8468C>T	XP_005246122.1:p.Thr2823Ile
XM_005246066.1:c.7847C>T	XP_005246123.1:p.Thr2616Ile
XM_006712253.1:c.8567C>T	XP_006712316.1:p.Thr2856Ile
XM_011510574.1:c.9065C>T	XP_011508876.1:p.Thr3022Ile
XM_011510575.1:c.6662C>T	XP_011508877.1:p.Thr2221Ile
XM_017003304.1:c.6662C>T	XP_016858793.1:p.Thr2221Ile
XM_024452684.1:c.7847C>T	XP_024308452.1:p.Thr2616Ile
NM_004369.4:c.9068C>T MANE Select	NP_004360.2:p.Thr3023Ile
NM_057166.5:c.7247C>T	NP_476507.3:p.Thr2416Ile
NM_057167.4:c.8450C>T	NP_476508.2:p.Thr2817Ile