Canonical Allele Identifier: CA351191789

Gene: COL6A3

Linked Data

• dbSNP Id: rs1195044110
• gnomAD v2: 2-238245029-A-G
• gnomAD v3: 2-237336386-A-G
• gnomAD v4: 2-237336386-A-G
• MyVariant Identifiers: chr2:g.238245029A>G (hg19) ; chr2:g.237336386A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336386A>G , CM000664.2:g.237336386A>G	GRCh38
NC_000002.11:g.238245029A>G , CM000664.1:g.238245029A>G	GRCh37
NC_000002.10:g.237909768A>G	NCBI36
NG_008676.1:g.82822T>C , LRG_473:g.82822T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1359T>C
ENST00000353578.9:c.8096T>C	ENSP00000315873.4:p.Val2699Ala
ENST00000682957.1:c.841T>C
ENST00000684508.1:n.981T>C
ENST00000295550.9:c.8714T>C MANE Select	ENSP00000295550.4:p.Val2905Ala
ENST00000295550.8:c.8714T>C	ENSP00000295550.4:p.Val2905Ala
ENST00000347401.7:c.6890T>C	ENSP00000315609.4:p.Val2297Ala
ENST00000353578.8:c.8096T>C	ENSP00000315873.4:p.Val2699Ala
ENST00000409809.5:c.8096T>C	ENSP00000386844.1:p.Val2699Ala
ENST00000472056.5:c.6893T>C	ENSP00000418285.1:p.Val2298Ala
ENST00000491769.1:n.5156T>C
NM_004369.3:c.8714T>C , LRG_473t1:c.8714T>C	NP_004360.2:p.Val2905Ala
NM_057166.4:c.6893T>C	NP_476507.3:p.Val2298Ala
NM_057167.3:c.8096T>C	NP_476508.2:p.Val2699Ala
XM_005246065.1:c.8114T>C	XP_005246122.1:p.Val2705Ala
XM_005246066.1:c.7493T>C	XP_005246123.1:p.Val2498Ala
XM_006712253.1:c.8213T>C	XP_006712316.1:p.Val2738Ala
XM_011510574.1:c.8711T>C	XP_011508876.1:p.Val2904Ala
XM_011510575.1:c.6308T>C	XP_011508877.1:p.Val2103Ala
XM_017003304.1:c.6308T>C	XP_016858793.1:p.Val2103Ala
XM_024452684.1:c.7493T>C	XP_024308452.1:p.Val2498Ala
NM_004369.4:c.8714T>C MANE Select	NP_004360.2:p.Val2905Ala
NM_057166.5:c.6893T>C	NP_476507.3:p.Val2298Ala
NM_057167.4:c.8096T>C	NP_476508.2:p.Val2699Ala