Canonical Allele Identifier: CA245566

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 197435
• ClinVar RCV Id: RCV000178463 ; RCV001064901 ; RCV003407658
• dbSNP Id: rs144054353
• ExAC: 2:238243437 C / G
• gnomAD v2: 2-238243437-C-G
• gnomAD v3: 2-237334794-C-G
• gnomAD v4: 2-237334794-C-G
• MyVariant Identifiers: chr2:g.238243437C>G (hg19) ; chr2:g.237334794C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237334794C>G , CM000664.2:g.237334794C>G	GRCh38
NC_000002.11:g.238243437C>G , CM000664.1:g.238243437C>G	GRCh37
NC_000002.10:g.237908176C>G	NCBI36
NG_008676.1:g.84414G>C , LRG_473:g.84414G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.1611-1246G>C
ENST00000353578.9:c.8443G>C	ENSP00000315873.4:p.Asp2815His
ENST00000682957.1:c.1188G>C
ENST00000295550.9:c.9061G>C MANE Select	ENSP00000295550.4:p.Asp3021His
ENST00000295550.8:c.9061G>C	ENSP00000295550.4:p.Asp3021His
ENST00000347401.7:c.7237G>C	ENSP00000315609.4:p.Asp2413His
ENST00000353578.8:c.8443G>C	ENSP00000315873.4:p.Asp2815His
ENST00000409809.5:c.8443G>C	ENSP00000386844.1:p.Asp2815His
ENST00000472056.5:c.7240G>C	ENSP00000418285.1:p.Asp2414His
ENST00000491769.1:n.5503G>C
NM_004369.3:c.9061G>C , LRG_473t1:c.9061G>C	NP_004360.2:p.Asp3021His
NM_057166.4:c.7240G>C	NP_476507.3:p.Asp2414His
NM_057167.3:c.8443G>C	NP_476508.2:p.Asp2815His
XM_005246065.1:c.8461G>C	XP_005246122.1:p.Asp2821His
XM_005246066.1:c.7840G>C	XP_005246123.1:p.Asp2614His
XM_006712253.1:c.8560G>C	XP_006712316.1:p.Asp2854His
XM_011510574.1:c.9058G>C	XP_011508876.1:p.Asp3020His
XM_011510575.1:c.6655G>C	XP_011508877.1:p.Asp2219His
XM_017003304.1:c.6655G>C	XP_016858793.1:p.Asp2219His
XM_024452684.1:c.7840G>C	XP_024308452.1:p.Asp2614His
NM_004369.4:c.9061G>C MANE Select	NP_004360.2:p.Asp3021His
NM_057166.5:c.7240G>C	NP_476507.3:p.Asp2414His
NM_057167.4:c.8443G>C	NP_476508.2:p.Asp2815His