Canonical Allele Identifier: CA351187690

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238275490A>C (hg19) ; chr2:g.237366847A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237366847A>C , CM000664.2:g.237366847A>C	GRCh38
NC_000002.11:g.238275490A>C , CM000664.1:g.238275490A>C	GRCh37
NC_000002.10:g.237940229A>C	NCBI36
NG_008676.1:g.52361T>G , LRG_473:g.52361T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.4722T>G	ENSP00000315873.4:p.Asn1574Lys
ENST00000295550.9:c.5340T>G MANE Select	ENSP00000295550.4:p.Asn1780Lys
ENST00000295550.8:c.5340T>G	ENSP00000295550.4:p.Asn1780Lys
ENST00000347401.7:c.3519T>G	ENSP00000315609.4:p.Asn1173Lys
ENST00000353578.8:c.4722T>G	ENSP00000315873.4:p.Asn1574Lys
ENST00000409809.5:c.4722T>G	ENSP00000386844.1:p.Asn1574Lys
ENST00000472056.5:c.3519T>G	ENSP00000418285.1:p.Asn1173Lys
NM_004369.3:c.5340T>G , LRG_473t1:c.5340T>G	NP_004360.2:p.Asn1780Lys
NM_057166.4:c.3519T>G	NP_476507.3:p.Asn1173Lys
NM_057167.3:c.4722T>G	NP_476508.2:p.Asn1574Lys
XM_005246065.1:c.4740T>G	XP_005246122.1:p.Asn1580Lys
XM_005246066.1:c.4119T>G	XP_005246123.1:p.Asn1373Lys
XM_006712253.1:c.4839T>G	XP_006712316.1:p.Asn1613Lys
XM_011510574.1:c.5337T>G	XP_011508876.1:p.Asn1779Lys
XM_011510575.1:c.2934T>G	XP_011508877.1:p.Asn978Lys
XM_017003304.1:c.2934T>G	XP_016858793.1:p.Asn978Lys
XM_024452684.1:c.4119T>G	XP_024308452.1:p.Asn1373Lys
NM_004369.4:c.5340T>G MANE Select	NP_004360.2:p.Asn1780Lys
NM_057166.5:c.3519T>G	NP_476507.3:p.Asn1173Lys
NM_057167.4:c.4722T>G	NP_476508.2:p.Asn1574Lys