Canonical Allele Identifier: CA351191159

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238244856C>G (hg19) ; chr2:g.237336213C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336213C>G , CM000664.2:g.237336213C>G	GRCh38
NC_000002.11:g.238244856C>G , CM000664.1:g.238244856C>G	GRCh37
NC_000002.10:g.237909595C>G	NCBI36
NG_008676.1:g.82995G>C , LRG_473:g.82995G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1532G>C
ENST00000353578.9:c.8269G>C	ENSP00000315873.4:p.Val2757Leu
ENST00000682957.1:c.1014G>C
ENST00000684508.1:n.1154G>C
ENST00000295550.9:c.8887G>C MANE Select	ENSP00000295550.4:p.Val2963Leu
ENST00000295550.8:c.8887G>C	ENSP00000295550.4:p.Val2963Leu
ENST00000347401.7:c.7063G>C	ENSP00000315609.4:p.Val2355Leu
ENST00000353578.8:c.8269G>C	ENSP00000315873.4:p.Val2757Leu
ENST00000409809.5:c.8269G>C	ENSP00000386844.1:p.Val2757Leu
ENST00000472056.5:c.7066G>C	ENSP00000418285.1:p.Val2356Leu
ENST00000491769.1:n.5329G>C
NM_004369.3:c.8887G>C , LRG_473t1:c.8887G>C	NP_004360.2:p.Val2963Leu
NM_057166.4:c.7066G>C	NP_476507.3:p.Val2356Leu
NM_057167.3:c.8269G>C	NP_476508.2:p.Val2757Leu
XM_005246065.1:c.8287G>C	XP_005246122.1:p.Val2763Leu
XM_005246066.1:c.7666G>C	XP_005246123.1:p.Val2556Leu
XM_006712253.1:c.8386G>C	XP_006712316.1:p.Val2796Leu
XM_011510574.1:c.8884G>C	XP_011508876.1:p.Val2962Leu
XM_011510575.1:c.6481G>C	XP_011508877.1:p.Val2161Leu
XM_017003304.1:c.6481G>C	XP_016858793.1:p.Val2161Leu
XM_024452684.1:c.7666G>C	XP_024308452.1:p.Val2556Leu
NM_004369.4:c.8887G>C MANE Select	NP_004360.2:p.Val2963Leu
NM_057166.5:c.7066G>C	NP_476507.3:p.Val2356Leu
NM_057167.4:c.8269G>C	NP_476508.2:p.Val2757Leu