Canonical Allele Identifier: CA431674947

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 2778982
• ClinVar RCV Id: RCV003631359
• dbSNP Id: rs1172348981
• gnomAD v2: 2-238245172-A-G
• gnomAD v4: 2-237336529-A-G
• MyVariant Identifiers: chr2:g.238245172A>G (hg19) ; chr2:g.237336529A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336529A>G , CM000664.2:g.237336529A>G	GRCh38
NC_000002.11:g.238245172A>G , CM000664.1:g.238245172A>G	GRCh37
NC_000002.10:g.237909911A>G	NCBI36
NG_008676.1:g.82679T>C , LRG_473:g.82679T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1216T>C
ENST00000353578.9:c.7953T>C	ENSP00000315873.4:p.Asn2651=
ENST00000682957.1:c.698T>C
ENST00000684508.1:n.838T>C
ENST00000295550.9:c.8571T>C MANE Select	ENSP00000295550.4:p.Asn2857=
ENST00000295550.8:c.8571T>C	ENSP00000295550.4:p.Asn2857=
ENST00000347401.7:c.6747T>C	ENSP00000315609.4:p.Asn2249=
ENST00000353578.8:c.7953T>C	ENSP00000315873.4:p.Asn2651=
ENST00000409809.5:c.7953T>C	ENSP00000386844.1:p.Asn2651=
ENST00000472056.5:c.6750T>C	ENSP00000418285.1:p.Asn2250=
ENST00000491769.1:n.5013T>C
NM_004369.3:c.8571T>C , LRG_473t1:c.8571T>C	NP_004360.2:p.Asn2857=
NM_057166.4:c.6750T>C	NP_476507.3:p.Asn2250=
NM_057167.3:c.7953T>C	NP_476508.2:p.Asn2651=
XM_005246065.1:c.7971T>C	XP_005246122.1:p.Asn2657=
XM_005246066.1:c.7350T>C	XP_005246123.1:p.Asn2450=
XM_006712253.1:c.8070T>C	XP_006712316.1:p.Asn2690=
XM_011510574.1:c.8568T>C	XP_011508876.1:p.Asn2856=
XM_011510575.1:c.6165T>C	XP_011508877.1:p.Asn2055=
XM_017003304.1:c.6165T>C	XP_016858793.1:p.Asn2055=
XM_024452684.1:c.7350T>C	XP_024308452.1:p.Asn2450=
NM_004369.4:c.8571T>C MANE Select	NP_004360.2:p.Asn2857=
NM_057166.5:c.6750T>C	NP_476507.3:p.Asn2250=
NM_057167.4:c.7953T>C	NP_476508.2:p.Asn2651=