Canonical Allele Identifier: CA351217638

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 937877
• ClinVar RCV Id: RCV001206994
• dbSNP Id: rs398124125
• MyVariant Identifiers: chr2:g.238270382C>A (hg19) ; chr2:g.237361739C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237361739C>A , CM000664.2:g.237361739C>A	GRCh38
NC_000002.11:g.238270382C>A , CM000664.1:g.238270382C>A	GRCh37
NC_000002.10:g.237935121C>A	NCBI36
NG_008676.1:g.57469G>T , LRG_473:g.57469G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.5538G>T	ENSP00000315873.4:p.Lys1846Asn
ENST00000295550.9:c.6156G>T MANE Select	ENSP00000295550.4:p.Lys2052Asn
ENST00000295550.8:c.6156G>T	ENSP00000295550.4:p.Lys2052Asn
ENST00000347401.7:c.4335G>T	ENSP00000315609.4:p.Lys1445Asn
ENST00000353578.8:c.5538G>T	ENSP00000315873.4:p.Lys1846Asn
ENST00000409809.5:c.5538G>T	ENSP00000386844.1:p.Lys1846Asn
ENST00000472056.5:c.4335G>T	ENSP00000418285.1:p.Lys1445Asn
NM_004369.3:c.6156G>T , LRG_473t1:c.6156G>T	NP_004360.2:p.Lys2052Asn
NM_057166.4:c.4335G>T	NP_476507.3:p.Lys1445Asn
NM_057167.3:c.5538G>T	NP_476508.2:p.Lys1846Asn
XM_005246065.1:c.5556G>T	XP_005246122.1:p.Lys1852Asn
XM_005246066.1:c.4935G>T	XP_005246123.1:p.Lys1645Asn
XM_006712253.1:c.5655G>T	XP_006712316.1:p.Lys1885Asn
XM_011510574.1:c.6153G>T	XP_011508876.1:p.Lys2051Asn
XM_011510575.1:c.3750G>T	XP_011508877.1:p.Lys1250Asn
XM_017003304.1:c.3750G>T	XP_016858793.1:p.Lys1250Asn
XM_024452684.1:c.4935G>T	XP_024308452.1:p.Lys1645Asn
NM_004369.4:c.6156G>T MANE Select	NP_004360.2:p.Lys2052Asn
NM_057166.5:c.4335G>T	NP_476507.3:p.Lys1445Asn
NM_057167.4:c.5538G>T	NP_476508.2:p.Lys1846Asn