Canonical Allele Identifier: CA351194393

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 476561
• ClinVar RCV Id: RCV000541124
• dbSNP Id: rs1553546042
• gnomAD v4: 2-237340476-T-A
• MyVariant Identifiers: chr2:g.238249119T>A (hg19) ; chr2:g.237340476T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340476T>A , CM000664.2:g.237340476T>A	GRCh38
NC_000002.11:g.238249119T>A , CM000664.1:g.238249119T>A	GRCh37
NC_000002.10:g.237913858T>A	NCBI36
NG_008676.1:g.78732A>T , LRG_473:g.78732A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1085A>T
ENST00000353578.9:c.7822A>T	ENSP00000315873.4:p.Arg2608Trp
ENST00000682957.1:c.443A>T
ENST00000684508.1:n.707A>T
ENST00000295550.9:c.8440A>T MANE Select	ENSP00000295550.4:p.Arg2814Trp
ENST00000295550.8:c.8440A>T	ENSP00000295550.4:p.Arg2814Trp
ENST00000347401.7:c.6616A>T	ENSP00000315609.4:p.Arg2206Trp
ENST00000353578.8:c.7822A>T	ENSP00000315873.4:p.Arg2608Trp
ENST00000409809.5:c.7822A>T	ENSP00000386844.1:p.Arg2608Trp
ENST00000468792.1:n.127A>T
ENST00000472056.5:c.6619A>T	ENSP00000418285.1:p.Arg2207Trp
ENST00000491769.1:n.4882A>T
NM_004369.3:c.8440A>T , LRG_473t1:c.8440A>T	NP_004360.2:p.Arg2814Trp
NM_057166.4:c.6619A>T	NP_476507.3:p.Arg2207Trp
NM_057167.3:c.7822A>T	NP_476508.2:p.Arg2608Trp
XM_005246065.1:c.7840A>T	XP_005246122.1:p.Arg2614Trp
XM_005246066.1:c.7219A>T	XP_005246123.1:p.Arg2407Trp
XM_006712253.1:c.7939A>T	XP_006712316.1:p.Arg2647Trp
XM_011510574.1:c.8437A>T	XP_011508876.1:p.Arg2813Trp
XM_011510575.1:c.6034A>T	XP_011508877.1:p.Arg2012Trp
XM_017003304.1:c.6034A>T	XP_016858793.1:p.Arg2012Trp
XM_024452684.1:c.7219A>T	XP_024308452.1:p.Arg2407Trp
NM_004369.4:c.8440A>T MANE Select	NP_004360.2:p.Arg2814Trp
NM_057166.5:c.6619A>T	NP_476507.3:p.Arg2207Trp
NM_057167.4:c.7822A>T	NP_476508.2:p.Arg2608Trp