Canonical Allele Identifier: CA2187495

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 1078625
• ClinVar RCV Id: RCV001393625
• dbSNP Id: rs375994186
• ExAC: 2:238245160 G / A
• gnomAD v2: 2-238245160-G-A
• gnomAD v3: 2-237336517-G-A
• gnomAD v4: 2-237336517-G-A
• COSMIC: COSM3579579
• MyVariant Identifiers: chr2:g.238245160G>A (hg19) ; chr2:g.237336517G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336517G>A , CM000664.2:g.237336517G>A	GRCh38
NC_000002.11:g.238245160G>A , CM000664.1:g.238245160G>A	GRCh37
NC_000002.10:g.237909899G>A	NCBI36
NG_008676.1:g.82691C>T , LRG_473:g.82691C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1228C>T
ENST00000353578.9:c.7965C>T	ENSP00000315873.4:p.Asn2655=
ENST00000682957.1:c.710C>T
ENST00000684508.1:n.850C>T
ENST00000295550.9:c.8583C>T MANE Select	ENSP00000295550.4:p.Asn2861=
ENST00000295550.8:c.8583C>T	ENSP00000295550.4:p.Asn2861=
ENST00000347401.7:c.6759C>T	ENSP00000315609.4:p.Asn2253=
ENST00000353578.8:c.7965C>T	ENSP00000315873.4:p.Asn2655=
ENST00000409809.5:c.7965C>T	ENSP00000386844.1:p.Asn2655=
ENST00000472056.5:c.6762C>T	ENSP00000418285.1:p.Asn2254=
ENST00000491769.1:n.5025C>T
NM_004369.3:c.8583C>T , LRG_473t1:c.8583C>T	NP_004360.2:p.Asn2861=
NM_057166.4:c.6762C>T	NP_476507.3:p.Asn2254=
NM_057167.3:c.7965C>T	NP_476508.2:p.Asn2655=
XM_005246065.1:c.7983C>T	XP_005246122.1:p.Asn2661=
XM_005246066.1:c.7362C>T	XP_005246123.1:p.Asn2454=
XM_006712253.1:c.8082C>T	XP_006712316.1:p.Asn2694=
XM_011510574.1:c.8580C>T	XP_011508876.1:p.Asn2860=
XM_011510575.1:c.6177C>T	XP_011508877.1:p.Asn2059=
XM_017003304.1:c.6177C>T	XP_016858793.1:p.Asn2059=
XM_024452684.1:c.7362C>T	XP_024308452.1:p.Asn2454=
NM_004369.4:c.8583C>T MANE Select	NP_004360.2:p.Asn2861=
NM_057166.5:c.6762C>T	NP_476507.3:p.Asn2254=
NM_057167.4:c.7965C>T	NP_476508.2:p.Asn2655=