Canonical Allele Identifier: CA2188785

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 285987
• ClinVar RCV Id: RCV000306414 ; RCV000389136 ; RCV001084936 ; RCV002298564 ; RCV000725761 ; RCV004547705
• dbSNP Id: rs117345850
• ExAC: 2:238277197 G / A
• gnomAD v2: 2-238277197-G-A
• gnomAD v3: 2-237368554-G-A
• gnomAD v4: 2-237368554-G-A
• MyVariant Identifiers: chr2:g.238277197G>A (hg19) ; chr2:g.237368554G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237368554G>A , CM000664.2:g.237368554G>A	GRCh38
NC_000002.11:g.238277197G>A , CM000664.1:g.238277197G>A	GRCh37
NC_000002.10:g.237941936G>A	NCBI36
NG_008676.1:g.50654C>T , LRG_473:g.50654C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000353578.9:c.4282+9C>T	ENSP00000315873.4:n.4282+9C>T
ENST00000684597.1:c.230+9C>T
ENST00000295550.9:c.4900+9C>T MANE Select	ENSP00000295550.4:n.4900+9C>T
ENST00000295550.8:c.4900+9C>T	ENSP00000295550.4:n.4900+9C>T
ENST00000347401.7:c.3079+9C>T	ENSP00000315609.4:n.3079+9C>T
ENST00000353578.8:c.4282+9C>T	ENSP00000315873.4:n.4282+9C>T
ENST00000409809.5:c.4282+9C>T	ENSP00000386844.1:n.4282+9C>T
ENST00000472056.5:c.3079+9C>T	ENSP00000418285.1:n.3079+9C>T
NM_004369.3:c.4900+9C>T , LRG_473t1:c.4900+9C>T	NP_004360.2:n.4900+9C>T
NM_057166.4:c.3079+9C>T	NP_476507.3:n.3079+9C>T
NM_057167.3:c.4282+9C>T	NP_476508.2:n.4282+9C>T
XM_005246065.1:c.4300+9C>T	XP_005246122.1:n.4300+9C>T
XM_005246066.1:c.3679+9C>T	XP_005246123.1:n.3679+9C>T
XM_006712253.1:c.4399+9C>T	XP_006712316.1:n.4399+9C>T
XM_011510574.1:c.4897+9C>T	XP_011508876.1:n.4897+9C>T
XM_011510575.1:c.2494+9C>T	XP_011508877.1:n.2494+9C>T
XM_017003304.1:c.2494+9C>T	XP_016858793.1:n.2494+9C>T
XM_024452684.1:c.3679+9C>T	XP_024308452.1:n.3679+9C>T
NM_004369.4:c.4900+9C>T MANE Select	NP_004360.2:n.4900+9C>T
NM_057166.5:c.3079+9C>T	NP_476507.3:n.3079+9C>T
NM_057167.4:c.4282+9C>T	NP_476508.2:n.4282+9C>T