Canonical Allele Identifier: CA431710401

Gene: COL6A3

Linked Data

• dbSNP Id: rs1198324149
• gnomAD v4: 2-237344518-C-T
• MyVariant Identifiers: chr2:g.238253161C>T (hg19) ; chr2:g.237344518C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344518C>T , CM000664.2:g.237344518C>T	GRCh38
NC_000002.11:g.238253161C>T , CM000664.1:g.238253161C>T	GRCh37
NC_000002.10:g.237917900C>T	NCBI36
NG_008676.1:g.74690G>A , LRG_473:g.74690G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.145G>A
ENST00000353578.9:c.6882G>A	ENSP00000315873.4:p.Lys2294=
ENST00000295550.9:c.7500G>A MANE Select	ENSP00000295550.4:p.Lys2500=
ENST00000295550.8:c.7500G>A	ENSP00000295550.4:p.Lys2500=
ENST00000347401.7:c.5676G>A	ENSP00000315609.4:p.Lys1892=
ENST00000353578.8:c.6882G>A	ENSP00000315873.4:p.Lys2294=
ENST00000409809.5:c.6882G>A	ENSP00000386844.1:p.Lys2294=
ENST00000472056.5:c.5679G>A	ENSP00000418285.1:p.Lys1893=
ENST00000491769.1:n.1754G>A
NM_004369.3:c.7500G>A , LRG_473t1:c.7500G>A	NP_004360.2:p.Lys2500=
NM_057166.4:c.5679G>A	NP_476507.3:p.Lys1893=
NM_057167.3:c.6882G>A	NP_476508.2:p.Lys2294=
XM_005246065.1:c.6900G>A	XP_005246122.1:p.Lys2300=
XM_005246066.1:c.6279G>A	XP_005246123.1:p.Lys2093=
XM_006712253.1:c.6999G>A	XP_006712316.1:p.Lys2333=
XM_011510574.1:c.7497G>A	XP_011508876.1:p.Lys2499=
XM_011510575.1:c.5094G>A	XP_011508877.1:p.Lys1698=
XM_017003304.1:c.5094G>A	XP_016858793.1:p.Lys1698=
XM_024452684.1:c.6279G>A	XP_024308452.1:p.Lys2093=
NM_004369.4:c.7500G>A MANE Select	NP_004360.2:p.Lys2500=
NM_057166.5:c.5679G>A	NP_476507.3:p.Lys1893=
NM_057167.4:c.6882G>A	NP_476508.2:p.Lys2294=