Canonical Allele Identifier: CA10606077

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 288410
• ClinVar RCV Id: RCV000364187 ; RCV001855209
• dbSNP Id: rs886043888
• gnomAD v2: 2-238280819-T-C
• gnomAD v3: 2-237372176-T-C
• gnomAD v4: 2-237372176-T-C
• MyVariant Identifiers: chr2:g.238280819T>C (hg19) ; chr2:g.237372176T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237372176T>C , CM000664.2:g.237372176T>C	GRCh38
NC_000002.11:g.238280819T>C , CM000664.1:g.238280819T>C	GRCh37
NC_000002.10:g.237945558T>C	NCBI36
NG_008676.1:g.47032A>G , LRG_473:g.47032A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.3223A>G	ENSP00000315873.4:p.Lys1075Glu
ENST00000295550.9:c.3841A>G MANE Select	ENSP00000295550.4:p.Lys1281Glu
ENST00000295550.8:c.3841A>G	ENSP00000295550.4:p.Lys1281Glu
ENST00000347401.7:c.2020A>G	ENSP00000315609.4:p.Lys674Glu
ENST00000353578.8:c.3223A>G	ENSP00000315873.4:p.Lys1075Glu
ENST00000392003.6:c.2620A>G	ENSP00000375860.2:p.Lys874Glu
ENST00000392004.7:c.3223A>G	ENSP00000375861.3:p.Lys1075Glu
ENST00000409809.5:c.3223A>G	ENSP00000386844.1:p.Lys1075Glu
ENST00000472056.5:c.2020A>G	ENSP00000418285.1:p.Lys674Glu
NM_004369.3:c.3841A>G , LRG_473t1:c.3841A>G	NP_004360.2:p.Lys1281Glu
NM_057164.4:c.2620A>G	NP_476505.3:p.Lys874Glu
NM_057165.4:c.3223A>G	NP_476506.3:p.Lys1075Glu
NM_057166.4:c.2020A>G	NP_476507.3:p.Lys674Glu
NM_057167.3:c.3223A>G	NP_476508.2:p.Lys1075Glu
XM_005246065.1:c.3241A>G	XP_005246122.1:p.Lys1081Glu
XM_005246066.1:c.2620A>G	XP_005246123.1:p.Lys874Glu
XM_006712253.1:c.3841A>G	XP_006712316.1:p.Lys1281Glu
XM_011510574.1:c.3841A>G	XP_011508876.1:p.Lys1281Glu
XM_011510575.1:c.1435A>G	XP_011508877.1:p.Lys479Glu
XM_017003304.1:c.1435A>G	XP_016858793.1:p.Lys479Glu
XM_024452684.1:c.2620A>G	XP_024308452.1:p.Lys874Glu
NM_004369.4:c.3841A>G MANE Select	NP_004360.2:p.Lys1281Glu
NM_057164.5:c.2620A>G	NP_476505.3:p.Lys874Glu
NM_057165.5:c.3223A>G	NP_476506.3:p.Lys1075Glu
NM_057166.5:c.2020A>G	NP_476507.3:p.Lys674Glu
NM_057167.4:c.3223A>G	NP_476508.2:p.Lys1075Glu