Canonical Allele Identifier: CA351190927

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 1308767
• ClinVar RCV Id: RCV001754655
• dbSNP Id: rs1700531524
• gnomAD v3: 2-237336155-G-A
• gnomAD v4: 2-237336155-G-A
• MyVariant Identifiers: chr2:g.238244798G>A (hg19) ; chr2:g.237336155G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336155G>A , CM000664.2:g.237336155G>A	GRCh38
NC_000002.11:g.238244798G>A , CM000664.1:g.238244798G>A	GRCh37
NC_000002.10:g.237909537G>A	NCBI36
NG_008676.1:g.83053C>T , LRG_473:g.83053C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1590C>T
ENST00000353578.9:c.8327C>T	ENSP00000315873.4:p.Pro2776Leu
ENST00000682957.1:c.1072C>T
ENST00000684508.1:n.1212C>T
ENST00000295550.9:c.8945C>T MANE Select	ENSP00000295550.4:p.Pro2982Leu
ENST00000295550.8:c.8945C>T	ENSP00000295550.4:p.Pro2982Leu
ENST00000347401.7:c.7121C>T	ENSP00000315609.4:p.Pro2374Leu
ENST00000353578.8:c.8327C>T	ENSP00000315873.4:p.Pro2776Leu
ENST00000409809.5:c.8327C>T	ENSP00000386844.1:p.Pro2776Leu
ENST00000472056.5:c.7124C>T	ENSP00000418285.1:p.Pro2375Leu
ENST00000491769.1:n.5387C>T
NM_004369.3:c.8945C>T , LRG_473t1:c.8945C>T	NP_004360.2:p.Pro2982Leu
NM_057166.4:c.7124C>T	NP_476507.3:p.Pro2375Leu
NM_057167.3:c.8327C>T	NP_476508.2:p.Pro2776Leu
XM_005246065.1:c.8345C>T	XP_005246122.1:p.Pro2782Leu
XM_005246066.1:c.7724C>T	XP_005246123.1:p.Pro2575Leu
XM_006712253.1:c.8444C>T	XP_006712316.1:p.Pro2815Leu
XM_011510574.1:c.8942C>T	XP_011508876.1:p.Pro2981Leu
XM_011510575.1:c.6539C>T	XP_011508877.1:p.Pro2180Leu
XM_017003304.1:c.6539C>T	XP_016858793.1:p.Pro2180Leu
XM_024452684.1:c.7724C>T	XP_024308452.1:p.Pro2575Leu
NM_004369.4:c.8945C>T MANE Select	NP_004360.2:p.Pro2982Leu
NM_057166.5:c.7124C>T	NP_476507.3:p.Pro2375Leu
NM_057167.4:c.8327C>T	NP_476508.2:p.Pro2776Leu