Canonical Allele Identifier: CA351190847

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238244778C>G (hg19) ; chr2:g.237336135C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336135C>G , CM000664.2:g.237336135C>G	GRCh38
NC_000002.11:g.238244778C>G , CM000664.1:g.238244778C>G	GRCh37
NC_000002.10:g.237909517C>G	NCBI36
NG_008676.1:g.83073G>C , LRG_473:g.83073G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1610G>C
ENST00000353578.9:c.8347G>C	ENSP00000315873.4:p.Val2783Leu
ENST00000682957.1:c.1092G>C
ENST00000684508.1:n.1232G>C
ENST00000295550.9:c.8965G>C MANE Select	ENSP00000295550.4:p.Val2989Leu
ENST00000295550.8:c.8965G>C	ENSP00000295550.4:p.Val2989Leu
ENST00000347401.7:c.7141G>C	ENSP00000315609.4:p.Val2381Leu
ENST00000353578.8:c.8347G>C	ENSP00000315873.4:p.Val2783Leu
ENST00000409809.5:c.8347G>C	ENSP00000386844.1:p.Val2783Leu
ENST00000472056.5:c.7144G>C	ENSP00000418285.1:p.Val2382Leu
ENST00000491769.1:n.5407G>C
NM_004369.3:c.8965G>C , LRG_473t1:c.8965G>C	NP_004360.2:p.Val2989Leu
NM_057166.4:c.7144G>C	NP_476507.3:p.Val2382Leu
NM_057167.3:c.8347G>C	NP_476508.2:p.Val2783Leu
XM_005246065.1:c.8365G>C	XP_005246122.1:p.Val2789Leu
XM_005246066.1:c.7744G>C	XP_005246123.1:p.Val2582Leu
XM_006712253.1:c.8464G>C	XP_006712316.1:p.Val2822Leu
XM_011510574.1:c.8962G>C	XP_011508876.1:p.Val2988Leu
XM_011510575.1:c.6559G>C	XP_011508877.1:p.Val2187Leu
XM_017003304.1:c.6559G>C	XP_016858793.1:p.Val2187Leu
XM_024452684.1:c.7744G>C	XP_024308452.1:p.Val2582Leu
NM_004369.4:c.8965G>C MANE Select	NP_004360.2:p.Val2989Leu
NM_057166.5:c.7144G>C	NP_476507.3:p.Val2382Leu
NM_057167.4:c.8347G>C	NP_476508.2:p.Val2783Leu