Canonical Allele Identifier: CA2189153

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 285334
• ClinVar RCV Id: RCV000286606 ; RCV000725632 ; RCV001143452 ; RCV001454599
• dbSNP Id: rs138426138
• ExAC: 2:238283227 G / A
• gnomAD v2: 2-238283227-G-A
• gnomAD v3: 2-237374584-G-A
• gnomAD v4: 2-237374584-G-A
• MyVariant Identifiers: chr2:g.238283227G>A (hg19) ; chr2:g.237374584G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237374584G>A , CM000664.2:g.237374584G>A	GRCh38
NC_000002.11:g.238283227G>A , CM000664.1:g.238283227G>A	GRCh37
NC_000002.10:g.237947966G>A	NCBI36
NG_008676.1:g.44624C>T , LRG_473:g.44624C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.2889C>T	ENSP00000315873.4:p.Asn963=
ENST00000295550.9:c.3507C>T MANE Select	ENSP00000295550.4:p.Asn1169=
ENST00000295550.8:c.3507C>T	ENSP00000295550.4:p.Asn1169=
ENST00000347401.7:c.1686C>T	ENSP00000315609.4:p.Asn562=
ENST00000353578.8:c.2889C>T	ENSP00000315873.4:p.Asn963=
ENST00000392003.6:c.2286C>T	ENSP00000375860.2:p.Asn762=
ENST00000392004.7:c.2889C>T	ENSP00000375861.3:p.Asn963=
ENST00000409809.5:c.2889C>T	ENSP00000386844.1:p.Asn963=
ENST00000472056.5:c.1686C>T	ENSP00000418285.1:p.Asn562=
NM_004369.3:c.3507C>T , LRG_473t1:c.3507C>T	NP_004360.2:p.Asn1169=
NM_057164.4:c.2286C>T	NP_476505.3:p.Asn762=
NM_057165.4:c.2889C>T	NP_476506.3:p.Asn963=
NM_057166.4:c.1686C>T	NP_476507.3:p.Asn562=
NM_057167.3:c.2889C>T	NP_476508.2:p.Asn963=
XM_005246065.1:c.2907C>T	XP_005246122.1:p.Asn969=
XM_005246066.1:c.2286C>T	XP_005246123.1:p.Asn762=
XM_006712253.1:c.3507C>T	XP_006712316.1:p.Asn1169=
XM_011510574.1:c.3507C>T	XP_011508876.1:p.Asn1169=
XM_011510575.1:c.1101C>T	XP_011508877.1:p.Asn367=
XM_017003304.1:c.1101C>T	XP_016858793.1:p.Asn367=
XM_024452684.1:c.2286C>T	XP_024308452.1:p.Asn762=
NM_004369.4:c.3507C>T MANE Select	NP_004360.2:p.Asn1169=
NM_057164.5:c.2286C>T	NP_476505.3:p.Asn762=
NM_057165.5:c.2889C>T	NP_476506.3:p.Asn963=
NM_057166.5:c.1686C>T	NP_476507.3:p.Asn562=
NM_057167.4:c.2889C>T	NP_476508.2:p.Asn963=