Canonical Allele Identifier: CA2187242

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 285453
• ClinVar RCV Id: RCV000340262 ; RCV000725664 ; RCV001081267
• dbSNP Id: rs184617787
• ExAC: 2:238233467 G / A
• gnomAD v2: 2-238233467-G-A
• gnomAD v3: 2-237324824-G-A
• gnomAD v4: 2-237324824-G-A
• MyVariant Identifiers: chr2:g.238233467G>A (hg19) ; chr2:g.237324824G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237324824G>A , CM000664.2:g.237324824G>A	GRCh38
NC_000002.11:g.238233467G>A , CM000664.1:g.238233467G>A	GRCh37
NC_000002.10:g.237898206G>A	NCBI36
NG_008676.1:g.94384C>T , LRG_473:g.94384C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.1875-10C>T
ENST00000353578.9:c.8876-10C>T	ENSP00000315873.4:n.8876-10C>T
ENST00000682957.1:c.1621-10C>T
ENST00000683348.1:c.360-10C>T	ENSP00000508058.1:n.360-10C>T
ENST00000295550.9:c.9494-10C>T MANE Select	ENSP00000295550.4:n.9494-10C>T
ENST00000295550.8:c.9494-10C>T	ENSP00000295550.4:n.9494-10C>T
ENST00000347401.7:c.7670-10C>T	ENSP00000315609.4:n.7670-10C>T
ENST00000353578.8:c.8876-10C>T	ENSP00000315873.4:n.8876-10C>T
ENST00000409809.5:c.8876-10C>T	ENSP00000386844.1:n.8876-10C>T
ENST00000472056.5:c.7673-10C>T	ENSP00000418285.1:n.7673-10C>T
ENST00000473258.1:n.4622-10C>T
ENST00000491769.1:n.5936-10C>T
NM_004369.3:c.9494-10C>T , LRG_473t1:c.9494-10C>T	NP_004360.2:n.9494-10C>T
NM_057166.4:c.7673-10C>T	NP_476507.3:n.7673-10C>T
NM_057167.3:c.8876-10C>T	NP_476508.2:n.8876-10C>T
XM_005246065.1:c.8894-10C>T	XP_005246122.1:n.8894-10C>T
XM_005246066.1:c.8273-10C>T	XP_005246123.1:n.8273-10C>T
XM_006712253.1:c.8993-10C>T	XP_006712316.1:n.8993-10C>T
XM_011510574.1:c.9491-10C>T	XP_011508876.1:n.9491-10C>T
XM_011510575.1:c.7088-10C>T	XP_011508877.1:n.7088-10C>T
XM_017003304.1:c.7088-10C>T	XP_016858793.1:n.7088-10C>T
XM_024452684.1:c.8273-10C>T	XP_024308452.1:n.8273-10C>T
NM_004369.4:c.9494-10C>T MANE Select	NP_004360.2:n.9494-10C>T
NM_057166.5:c.7673-10C>T	NP_476507.3:n.7673-10C>T
NM_057167.4:c.8876-10C>T	NP_476508.2:n.8876-10C>T