Canonical Allele Identifier: CA351188179

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238243322A>G (hg19) ; chr2:g.237334679A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334679A>G , CM000664.2:g.237334679A>G	GRCh38
NC_000002.11:g.238243322A>G , CM000664.1:g.238243322A>G	GRCh37
NC_000002.10:g.237908061A>G	NCBI36
NG_008676.1:g.84529T>C , LRG_473:g.84529T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1611-1131T>C
ENST00000353578.9:c.8558T>C	ENSP00000315873.4:p.Val2853Ala
ENST00000682957.1:c.1303T>C
ENST00000683348.1:c.44T>C	ENSP00000508058.1:p.Val15Ala
ENST00000295550.9:c.9176T>C MANE Select	ENSP00000295550.4:p.Val3059Ala
ENST00000295550.8:c.9176T>C	ENSP00000295550.4:p.Val3059Ala
ENST00000347401.7:c.7352T>C	ENSP00000315609.4:p.Val2451Ala
ENST00000353578.8:c.8558T>C	ENSP00000315873.4:p.Val2853Ala
ENST00000409809.5:c.8558T>C	ENSP00000386844.1:p.Val2853Ala
ENST00000472056.5:c.7355T>C	ENSP00000418285.1:p.Val2452Ala
ENST00000491769.1:n.5618T>C
ENST00000493608.1:n.108T>C
NM_004369.3:c.9176T>C , LRG_473t1:c.9176T>C	NP_004360.2:p.Val3059Ala
NM_057166.4:c.7355T>C	NP_476507.3:p.Val2452Ala
NM_057167.3:c.8558T>C	NP_476508.2:p.Val2853Ala
XM_005246065.1:c.8576T>C	XP_005246122.1:p.Val2859Ala
XM_005246066.1:c.7955T>C	XP_005246123.1:p.Val2652Ala
XM_006712253.1:c.8675T>C	XP_006712316.1:p.Val2892Ala
XM_011510574.1:c.9173T>C	XP_011508876.1:p.Val3058Ala
XM_011510575.1:c.6770T>C	XP_011508877.1:p.Val2257Ala
XM_017003304.1:c.6770T>C	XP_016858793.1:p.Val2257Ala
XM_024452684.1:c.7955T>C	XP_024308452.1:p.Val2652Ala
NM_004369.4:c.9176T>C MANE Select	NP_004360.2:p.Val3059Ala
NM_057166.5:c.7355T>C	NP_476507.3:p.Val2452Ala
NM_057167.4:c.8558T>C	NP_476508.2:p.Val2853Ala